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
AUH	gene	AUH	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type I, MIM# 250950			Optic atrophy;HP:0000648	20855850;30143805;31765440;1594352		False	2	0;100;0	1.45	True		ENSG00000148090	ENSG00000148090	HGNC:890													
CCDC88A	gene	CCDC88A	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	PEHO syndrome-like, MIM#617507			Optic atrophy;HP:0000648	26917597;30392057;28899015		False	2	0;100;0	1.45	True		ENSG00000115355	ENSG00000115355	HGNC:25523													
MCAT	gene	MCAT	Expert Review Amber;Literature	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Optic atrophy 15, MIM# 620583			Optic atrophy;HP:0000648	33918393;31915829		False	2	0;50;50	1.45	True		ENSG00000100294	ENSG00000100294	HGNC:29622													
MIR204	gene	MIR204	Expert Review Amber;Literature	Optic Atrophy		Ophthalmological disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)			Optic atrophy;HP:0000648	26056285;37321975		False	2	100;0;0	1.45	True	Other	ENSG00000207935	ENSG00000207935	HGNC:31582													
NDUFS1	gene	NDUFS1	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 5, 618226			Optic atrophy;HP:0000648	11349233;24952175;22200994;21203893		False	2	0;100;0	1.45	True		ENSG00000023228	ENSG00000023228	HGNC:7707													
NDUFS3	gene	NDUFS3	Expert Review Amber;Literature	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230			Optic atrophy;HP:0000648	22499348;30140060;14729820;33097395		False	2	0;100;0	1.45	True		ENSG00000213619	ENSG00000213619	HGNC:7710													
PDSS1	gene	PDSS1	Expert Review Amber;Literature	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	"Coenzyme Q10 deficiency, primary, 2, MIM#	614651"			Optic atrophy;HP:0000648	33285023		False	2	0;100;0	1.45	True		ENSG00000148459	ENSG00000148459	HGNC:17759													
PLAA	gene	PLAA	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)			Optic atrophy;HP:0000648	28413018;28007986		False	2	0;100;0	1.45	True		ENSG00000137055	ENSG00000137055	HGNC:9043													
POLG	gene	POLG	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459;Progressive external ophthalmoplegia, autosomal recessive 1 258450			Optic atrophy;HP:0000648	31613174;20142534;30395865		False	2	0;100;0	1.45	True		ENSG00000140521	ENSG00000140521	HGNC:9179													
SNF8	gene	SNF8	Expert Review Amber;Literature	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder plus optic atrophy, MIM# 620784			Optic atrophy;HP:0000648	38423010		False	2	0;100;0	1.45	True		ENSG00000159210	ENSG00000159210	HGNC:17028													
TBCD	gene	TBCD	Expert Review;Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193			Optic atrophy;HP:0000648	27666370;27666374		False	2	0;100;0	1.45	True		ENSG00000141556	ENSG00000141556	HGNC:11581													
TIMM50	gene	TIMM50	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	3-methylglutaconic aciduria, type IX (MIM#617698)			Optic atrophy;HP:0000648	27573165;31058414		False	2	100;0;0	1.45	True		ENSG00000105197	ENSG00000105197	HGNC:23656													
TIMM8A	gene	TIMM8A	Expert Review Amber;Victorian Clinical Genetics Services	Optic Atrophy		Ophthalmological disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Mohr-Tranebjaerg syndrome (MIM#304700)			Optic atrophy;HP:0000648	31903733;30634948;22736418		False	2	0;100;0	1.45	True		ENSG00000126953	ENSG00000126953	HGNC:11817													
ZDHHC16	gene	ZDHHC16	Expert Review Amber;Literature	Optic Atrophy		Ophthalmological disorders	BIALLELIC, autosomal or pseudoautosomal	neurodevelopmental disorder MONDO:0700092, ZDHHC16-related			Optic atrophy;HP:0000648	39313616		False	2	0;100;0	1.45	True		ENSG00000171307	ENSG00000171307	HGNC:20714