Genomics England
GMS Panels
Panels
Genes and Entities

Structural eye disease (Version: )

There is a more recent signed-off version of this panel
Relevant disorders: R36
Signed off date: 4 Mar 2020
Panel types: GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
114 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
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
Green
ACTB
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
ACTG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
ADAMTS10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS17
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTS18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ADAMTSL4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALDH1A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATOH7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GALNT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
B3GLCT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BCOR
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
BEST1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
BMP4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
C12orf57
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CBS
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CC2D2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP290
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHD7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
CHRDL1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CLDN19
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL18A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL4A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
CPAMD8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRYAA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CRYGC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CYP1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX58
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DOCK6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESCO2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FBN1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FKTN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXC1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
FOXD3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
FOXE3
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
FRAS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FREM1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FREM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Green
GJA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
GJA8
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GRIP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Green
HMX1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INPP5E
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37393-Gain
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37396-Loss
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISPD
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KIAA1109
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KMT2D
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LAMB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRP5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LTBP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAB21L2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
MAF
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
MAPRE2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MFRP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MITF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYOC
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYRF
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
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
Green
NDP
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
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
Green
OTX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
PAX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
PAX6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
PIGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PITX2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
PITX3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
POMGNT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POMT2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Green
PRR12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRSS56
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PTCH1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PUF60
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
PXDN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB18
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB3GAP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RAB3GAP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RARB
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
RAX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RBP4
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
RERE
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
RIPK4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPGRIP1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SALL1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SALL4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SBF2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SH3PXD2B
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SHH
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SIX6
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
SLC38A8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SMCHD1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SMO
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
SMOC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SOX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
SRD5A3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRA6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D20
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TENM3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TFAP2A
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TMEM216
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM237
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM67
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM98
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
TUBGCP4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VSX2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YAP1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
ZEB2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A