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: 3 Oct 2024
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
Green
ABHD12
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACTG1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ADGRV1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AIFM1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
ALMS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AP1S1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V1B1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V1B2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
BCS1L
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BSND
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CABP2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CCDC50
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
CDC14A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CDH23
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEACAM16
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CEP250
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP78
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CHD7
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CIB2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CISD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN14
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN9
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLPP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLRN1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COCH
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL11A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
COL11A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
COL2A1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
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
Green
COL9A1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COL9A2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRYM
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DFNA5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
DFNB59
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
DIAPH1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
DMXL2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNMT1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DSPP
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EDN3
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
EDNRB
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
EPS8
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EPS8L2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ESPN
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
ESRRB
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
EYA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
EYA4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FDXR
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FGF3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FOXI1
BIALLELIC, autosomal or pseudoautosomalN/Ato_be_confirmed_NHSE
Green
GATA3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GGPS1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GIPC3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GJB2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GJB3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE
Green
GPSM2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GREB1L
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
GRHL2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
GRXCR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HAAO
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
HARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HOXA2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
HSD17B4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ILDR1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-46297-Loss
16p12.2 recurrent region (distal)(includes OTOA) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KARS
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
KCNE1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ10
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ16
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNQ1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNQ4
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
KIT
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
LARS2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LHFPL5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMX1A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
LOXHD1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LRTOMT
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MARVELD2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MASP1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MITF
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
MN1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
MPZL2
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MSRB3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MT-RNR1
MITOCHONDRIALN/Alocus-type-rna-ribosomal, gene-checked
Green
MT-TS1
MITOCHONDRIALN/Alocus-type-rna-transfer, gene-checked
Green
MYH14
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYH9
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYO15A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO3A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MYO6
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
MYO7A
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
OGDHL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OPA1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
OSBPL2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
OTOA
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTOF
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTOG
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OTOGL
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
P2RX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PAX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PAX3
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
PBX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PCDH15
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PDZD7
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLS1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PNPT1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
POU3F4
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
POU4F3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PRPS1
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
PTPRQ
BIALLELIC, autosomal or pseudoautosomalN/AQ3_23_MOI
Green
RDX
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RNF220
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
S1PR2
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
SERAC1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SERPINB6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SGPL1
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIX1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC12A2
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC17A8
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
SLC26A4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC26A5
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC4A11
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC52A2
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
SLC52A3
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
SLITRK6
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
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
Green
SOX10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SOX2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Afor-review, to_be_confirmed_NHSE
Green
SPATA5
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
SPATA5L1
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked, new-gene-name
Green
STRC
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SYNE4
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D24
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TECTA
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TIMM8A
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
TMC1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
TMIE
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMPRSS3
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRIOBP
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USH1C
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USH1G
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USH2A
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
USP48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
WFS1
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
WHRN
BIALLELIC, autosomal or pseudoautosomalN/AN/A