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
ALG3	gene	ALG3	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110						False	1	0;0;100	5.54	False		ENSG00000214160	ENSG00000214160	HGNC:23056													
AUH	gene	AUH	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950						False	1	0;0;100	5.54	False		ENSG00000148090	ENSG00000148090	HGNC:890													
DNAJC19	gene	DNAJC19	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198				27054461;16055927		False	1	0;0;100	5.54	False		ENSG00000205981	ENSG00000205981	HGNC:30528													
FXN	gene	FXN	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300				19268652		False	1	0;0;100	5.54	False		ENSG00000165060	ENSG00000165060	HGNC:3951													
GP1BA	gene	GP1BA	Expert Review Red;London North GLH;Radboud University Medical Center, Nijmegen	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}						False	1	0;0;100	5.54	False		ENSG00000185245	ENSG00000185245	HGNC:4439													
INTS8	gene	INTS8	Literature	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572				28542170		False	1	0;0;100	5.54	False		ENSG00000164941	ENSG00000164941	HGNC:26048													
KIF7	gene	KIF7	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	ACROCALLOSAL SYNDROME, 200990						False	1	0;0;100	5.54	False		ENSG00000166813	ENSG00000166813	HGNC:30497													
LYST	gene	LYST	Expert Review Red;Literature;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Optic neuropathy in late-onset neurodegenerative Ch diak Higashi syndrome lacking features of ocular albinism				26307451;23521865		False	1	0;0;100	5.54	False		ENSG00000143669	ENSG00000143669	HGNC:1968													
MTPAP	gene	MTPAP	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672						False	1	0;0;100	5.54	False		ENSG00000107951	ENSG00000107951	HGNC:25532													
NDUFS1	gene	NDUFS1	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226						False	1	0;0;100	5.54	False		ENSG00000023228	ENSG00000023228	HGNC:7707													
NDUFS2	gene	NDUFS2	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 6, 618228				28031252		False	1	0;0;100	5.54	False		ENSG00000158864	ENSG00000158864	HGNC:7708													
NDUFS3	gene	NDUFS3	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial complex I deficiency, nuclear type 8, 618230				14729820		False	1	0;0;100	5.54	False		ENSG00000213619	ENSG00000213619	HGNC:7710													
NEFH	gene	NEFH	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924						False	1	0;0;100	5.54	False		ENSG00000100285	ENSG00000100285	HGNC:7737													
RAB3GAP1	gene	RAB3GAP1	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	WARBURG MICRO SYNDROME 1, 600118				26421802		False	1	0;0;100	5.54	False		ENSG00000115839	ENSG00000115839	HGNC:17063													
TBC1D20	gene	TBC1D20	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	WARBURG MICRO SYNDROME 4 615663						False	1	0;0;100	5.54	False		ENSG00000125875	ENSG00000125875	HGNC:16133													
TSFM	gene	TSFM	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505				25037205		False	1	0;0;100	5.54	False		ENSG00000123297	ENSG00000123297	HGNC:12367													
YME1L1	gene	YME1L1	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Optic atrophy 617302;sensorineural hearing impairment;ataxia;other CNS symptoms (OPA11)				30544562		False	1	0;0;100	5.54	False		ENSG00000136758	ENSG00000136758	HGNC:12843													
ZNHIT3	gene	ZNHIT3	Expert Review Red;London North GLH	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565				28335020		False	1	0;0;100	5.54	False		ENSG00000108278	ENSG00000273611	HGNC:12309													
ZPR1	gene	ZPR1	Expert Review Red;Literature	Optic neuropathy		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321				29851065		False	1	0;0;100	5.54	False		ENSG00000109917	ENSG00000109917	HGNC:13051