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
MIEF1	gene	MIEF1	Expert Review Red;Literature	Optic Atrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Optic atrophy 14 (MIM#620550)			Optic atrophy;HP:0000648	33632269		False	1	0;100;0	1.45	True		ENSG00000100335	ENSG00000100335	HGNC:25979													
MTPAP	gene	MTPAP	Expert Review Red;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Spastic ataxia 4, autosomal recessive 613672			Optic atrophy;HP:0000648	20970105		False	1	0;0;100	1.45	True		ENSG00000107951	ENSG00000107951	HGNC:25532													
NDUFA7	gene	NDUFA7	Expert Review Red;Other	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Optic atrophy, MONDO:0003608, NDUFA7-related			Optic atrophy;HP:0000648			False	1	0;50;50	1.45	True		ENSG00000267855	ENSG00000267855	HGNC:7691													
PBX1	gene	PBX1	Expert Review Red;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			Optic atrophy;HP:0000648	29036646		False	1	0;0;100	1.45	True		ENSG00000185630	ENSG00000185630	HGNC:8632													
SLC24A1	gene	SLC24A1	Expert Review Red;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Night blindness, congenital stationary (complete), 1D, autosomal recessive;613830			Optic atrophy;HP:0000648	26822852;20850105		False	1	0;100;0	1.45	True		ENSG00000074621	ENSG00000074621	HGNC:10975													
UBA5	gene	UBA5	Expert Review Red;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Epileptic encephalopathy, early infantile, 44 (MIM#617132)			Optic atrophy;HP:0000648	28965491;27545674;27545681		False	1	0;0;100	1.45	True		ENSG00000081307	ENSG00000081307	HGNC:23230													
YME1L1	gene	YME1L1	Expert list;Expert Review Red	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Optic atrophy 11 MIM#617302			Optic atrophy;HP:0000648	27495975		False	1	0;0;100	1.45	True		ENSG00000136758	ENSG00000136758	HGNC:12843