Genomics England
GMS Panels
Panels
Genes and Entities

Monogenic hearing loss (Version: )

Relevant disorders: Hearing loss, Congenital hearing impairment, Autosomal dominant deafness, Congenital hearing impairment (profound/severe), Non-syndromic hearing loss, R67
Signed off date: 6 Dec 2023
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
See this panel in PanelApp
147 green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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ABHD12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ACTG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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ADGRV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AIFM1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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ALMS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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AP1S1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATP6V1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ATP6V1B2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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BCS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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BSND
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CABP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CCDC50
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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CDC14A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CDH23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CEACAM16
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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CEP250
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CEP78
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CHD7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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CIB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CISD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLDN14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLDN9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLPP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CLRN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COCH
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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COL11A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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COL11A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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COL2A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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COL4A5
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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COL9A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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COL9A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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CRYM
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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DFNA5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
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DFNB59
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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DIAPH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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DMXL2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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DNMT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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DSPP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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EDN3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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EDNRB
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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EPS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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EPS8L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ESPN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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ESRRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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EYA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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EYA4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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FDXR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FGF3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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FOXI1
BIALLELIC, autosomal or pseudoautosomalN/Ato_be_confirmed_NHSE, Q1_22_expert_review, Q1_22_MOI
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GATA3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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GGPS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GIPC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GJB2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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GJB3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE
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GPSM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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GREB1L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
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GRHL2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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GRXCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HAAO
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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HARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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HOXA2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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HSD17B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ILDR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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ISCA-46297-Loss
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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KCNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KCNJ10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KCNJ16
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KCNQ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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KCNQ4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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KIT
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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LARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LHFPL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LMX1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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LOXHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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LRTOMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MARVELD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MASP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MITF
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
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MN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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MPZL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MSRB3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MT-RNR1
MITOCHONDRIALN/Alocus-type-rna-ribosomal, gene-checked
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MT-TS1
MITOCHONDRIALN/Agene-checked
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MYH14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MYH9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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MYO15A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MYO3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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MYO6
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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MYO7A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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OGDHL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OPA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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OSBPL2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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OTOA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OTOF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OTOG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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OTOGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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P2RX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PAX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PAX3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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PBX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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PCDH15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PDZD7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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PLS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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POU3F4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
POU4F3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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PRPS1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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PTPRQ
BIALLELIC, autosomal or pseudoautosomalN/AQ3_23_MOI
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RDX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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RNF220
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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S1PR2
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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SERAC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SERPINB6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SGPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SIX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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SLC12A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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SLC17A8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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SLC26A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SLC26A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SLC4A11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SLC52A2
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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SLC52A3
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
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SLITRK6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SMPX
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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SOX10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
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SOX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afor-review, to_be_confirmed_NHSE
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SPATA5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
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SPATA5L1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
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STRC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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SYNE4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TBC1D24
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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TECTA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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TIMM8A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
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TMC1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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TMIE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TMPRSS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TPRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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TRIOBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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USH1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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USH1G
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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USH2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
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USP48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
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WFS1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
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WHRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A