Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
AIFM1	gene	AIFM1	Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Deafness, X-linked 5 MIM#300614;non-syndromic auditory neuropathy spectrum disorder				21176974;25986071		False	3	100;0;0	1.1	False		ENSG00000156709	ENSG00000156709	HGNC:8768													
DFNB59	gene	DFNB59	Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 59 MIM#610220;non-syndromic auditory neuropathy spectrum disorder				21176974		False	3	100;0;0	1.1	False		ENSG00000204311	ENSG00000204311	HGNC:29502													
FDXR	gene	FDXR	Expert list;Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Auditory neuropathy and optic atrophy, MIM# 617717				28965846		False	3	100;0;0	1.1	False		ENSG00000161513	ENSG00000161513	HGNC:3642													
FXN	gene	FXN	Expert Review Green;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Friedreich ataxia MIM#229300				18515321;25791504		False	3	100;0;0	1.1	True		ENSG00000165060	ENSG00000165060	HGNC:3951													
GJB1	gene	GJB1	Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 MIM#302800;Syndromic auditory neuropathy spectrum disorder				21176974		False	3	50;50;0	1.1	True		ENSG00000169562	ENSG00000169562	HGNC:4283													
GJB2	gene	GJB2	Expert Review Green;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Deafness, autosomal recessive 1A MIM#220290;non-syndromic auditory neuropathy spectrum disorder				21176974		False	3	100;0;0	1.1	False		ENSG00000165474	ENSG00000165474	HGNC:4284													
NDRG1	gene	NDRG1	Expert Review Green;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Charcot-Marie-Tooth disease, type 4D MIM#601455;Syndromic auditory neuropathy spectrum disorder				21176974		False	3	100;0;0	1.1	True		ENSG00000104419	ENSG00000104419	HGNC:7679													
NEFL	gene	NEFL	Expert Review Green;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic auditory neuropathy spectrum disorder				21176974		False	3	100;0;0	1.1	True		ENSG00000104725	ENSG00000277586	HGNC:7739													
OPA1	gene	OPA1	Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic auditory neuropathy spectrum disorder;Optic atrophy plus syndrome, MIM# 125250				21176974		False	3	100;0;0	1.1	False		ENSG00000198836	ENSG00000198836	HGNC:8140													
OTOF	gene	OTOF	Expert Review Green;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Auditory neuropathy, autosomal recessive, 1 MIM#601071;non-syndromic auditory neuropathy spectrum disorder				21176974		False	3	100;0;0	1.1	False		ENSG00000115155	ENSG00000115155	HGNC:8515													
PMP22	gene	PMP22	Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Syndromic auditory neuropathy spectrum disorder				21176974		False	3	50;50;0	1.1	True		ENSG00000109099	ENSG00000109099	HGNC:9118													
SLC52A2	gene	SLC52A2	Expert list;Expert Review Green	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brown-Vialetto-Van Laere syndrome 2 MIM#614707;Syndromic auditory neuropathy spectrum disorder				26918385;26092362		False	3	100;0;0	1.1	True		ENSG00000185803	ENSG00000185803	HGNC:30224													
SLC52A3	gene	SLC52A3	Expert Review Green;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brown-Vialetto-Van Laere syndrome 1 MIM#211530;Syndromic auditory neuropathy spectrum disorder				32128519;20206331;20920669;29961494		False	3	100;0;0	1.1	True		ENSG00000101276	ENSG00000101276	HGNC:16187													
SPTBN4	gene	SPTBN4	Expert list;Expert Review Green;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, MIM# 617519;Syndromic auditory neuropathy spectrum disorder						False	3	100;0;0	1.1	True		ENSG00000160460	ENSG00000160460	HGNC:14896													
TIMM8A	gene	TIMM8A	Expert Review Green;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mohr-Tranebjaerg syndrome, MIM# 304700;Syndromic auditory neuropathy spectrum disorder				21176974		False	3	100;0;0	1.1	True		ENSG00000126953	ENSG00000126953	HGNC:11817