Genomics England
GMS Panels
Panels
Genes and Entities

Structural eye disease (Version: )

Relevant disorders: R36
Signed off date: 7 Aug 2024
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
147 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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ABCB6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
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ACTB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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ACTG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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ADAMTS10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADAMTS17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADAMTS18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ADAMTSL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALDH1A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ALX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ANK3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ARHGAP35
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
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ASPH
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATOH7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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B3GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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B3GLCT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BCOR
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
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BEST1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Awatchlist_moi
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BMP4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BMPR1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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C12orf57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CAPN15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CBS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CC2D2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CDON
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CENPF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CEP290
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CHD7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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CHRDL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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CLDN19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COL18A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COL4A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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CPAMD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CREBBP
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CRIM1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
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CRYAA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CRYBB1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CRYBB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CRYGC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CYP1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DDX58
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypenew-gene-name
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DOCK6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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DYRK1A
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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EPHA2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ESCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FAT1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
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FBN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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FKTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FOXC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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FOXD3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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FOXE3
BIALLELIC, autosomal or pseudoautosomalOtherwatchlist_moi
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FRAS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FREM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FREM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FZD5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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GDF6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
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GJA1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
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GJA8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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GRIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HCCS
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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HHAT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HMX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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IFIH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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INPP5E
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ISCA-37393-Gain
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ISCA-37396-Loss
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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ISPD
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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KDM6A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/ASkewed X-inactivation
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KIAA0586
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KIAA1109
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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KIF11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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KMT2D
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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LAMB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LMX1B
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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LRP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LRP5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LTBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MAB21L2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
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MAF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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MAPRE2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MFRP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MIR204
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypelocus-type-rna-micro
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MITF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MYOC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MYRF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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NAA10
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)other - please provide details in the commentsN/A
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NDP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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NHS
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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NUP188
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OCRL
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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OFD1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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OTX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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PACS1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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PAX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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PAX6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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PIGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PITX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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PITX3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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POMGNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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POMT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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POMT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PORCN
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
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PRR12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PRSS56
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PTCH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PUF60
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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PXDN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RAB18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RAB3GAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RAB3GAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RARB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
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RAX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RBP4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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RERE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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RHOA
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
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RIPK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RPGRIP1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SALL1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SALL4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SBF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SH3PXD2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SHH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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SIX6
BIALLELIC, autosomal or pseudoautosomalOtherN/A
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SLC25A24
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SLC38A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SLC4A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SMCHD1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SMG8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SMO
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, somatic
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SMOC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SOX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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STRA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TBC1D20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TEK
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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TENM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TFAP2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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TMEM216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TMEM237
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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TMEM67
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TMEM98
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
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TUBGCP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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VSX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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WDR37
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Agene-checked
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WLS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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YAP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
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ZEB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A