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
ABHD12	gene	ABHD12	Expert Review Amber;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674;Syndromic auditory neuropathy spectrum disorder				31393079		False	2	0;100;0	1.1	False		ENSG00000100997	ENSG00000100997	HGNC:15868													
DIAPH3	gene	DIAPH3	Expert Review Amber;Literature;Melbourne Genomics Health Alliance Deafness Flagship;Victorian Clinical Genetics Services	Auditory Neuropathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Auditory neuropathy, autosomal dominant, 1 MIM#609129;non-syndromic auditory neuropathy spectrum disorder				21176974		False	2	0;0;100	1.1	True		ENSG00000139734	ENSG00000139734	HGNC:15480													
TMEM126A	gene	TMEM126A	Expert Review Amber;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Optic atrophy 7 MIM#612989;Syndromic auditory neuropathy spectrum disorder				21176974		False	2	0;100;0	1.1	True		ENSG00000171202	ENSG00000171202	HGNC:25382													
TRPV4	gene	TRPV4	Expert Review Amber;Literature	Auditory Neuropathy		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Auditory neuropathy spectrum disorder;Peripheral neuropathy;Hearing loss				31393079;24789864;22675077;31468327;20460441;15925108		False	2	0;100;0	1.1	True		ENSG00000111199	ENSG00000111199	HGNC:18083