Optic Atrophy (Version 1.45)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 61 Entitiess
Green List (high evidence)	ACO2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 9, MIM# 616289 Infantile cerebellar-retinal degeneration, MIM# 614559 Tags
Green List (high evidence)	AFG3L2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 12, MIM# 618977 Tags
Green List (high evidence)	ANTXR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes GAPO syndrome, MIM# 230740 Tags
Green List (high evidence)	AP3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Early-onset epileptic encephalopathy with optic atrophy, MIM#617276 Tags
Green List (high evidence)	ATAD3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Harel-Yoon syndrome, MIM#617183 Tags
Green List (high evidence)	ATG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green List (high evidence)	BORCS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, MIM# 620987 Tags
Green List (high evidence)	C12orf65	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 7 Spastic paraplegia 55, autosomal recessive Tags new gene name
Green List (high evidence)	C19orf12	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes ?Spastic paraplegia 43, autosomal recessive 61504 Neurodegeneration with brain iron accumulation 4 614298 Tags
Green List (high evidence)	CISD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wolfram syndrome 2, MIM#604928 Tags
Green List (high evidence)	DNAJC30	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leber Hereditary Optic Neuropathy, MIM#619382 Tags
Green List (high evidence)	DNM1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green Phenotypes Optic atrophy 5 (MIM#610708) Tags
Green List (high evidence)	FDXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, MIM#617717 Tags
Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO:0700092, FLVCR1-related Tags
Green List (high evidence)	HIKESHI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukodystrophy, hypomyelinating, 13, MIM# 616881 Tags
Green List (high evidence)	KIF5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes myoclonus, intractable, neonatal MONDO:0014979 Leber hereditary optic neuropathy MONDO:0010788 Tags
Green List (high evidence)	KLC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia, optic atrophy, and neuropathy MIM#609541 Tags SV/CNV
Green List (high evidence)	LETM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green List (high evidence)	MECR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 16, MIM# 620629 Tags
Green List (high evidence)	MFF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Tags
Green List (high evidence)	MFN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152 Tags
Green List (high evidence)	NBAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly Tags
Green List (high evidence)	NDUFA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes isolated optic atrophy MONDO:0003608 Tags
Green List (high evidence)	NDUFS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569 Tags
Green List (high evidence)	NR2F1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722 Tags
Green List (high evidence)	OPA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 1 165500 Optic atrophy plus syndrome, MIM# 125250 Behr syndrome, MIM# 210000 Tags
Green List (high evidence)	OPA3	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR Optic atrophy 3 with cataract (MIM#165300), AD Tags
Green List (high evidence)	PDXK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Axonal polyneuropathy optic atrophy Tags
Green List (high evidence)	PTCD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency-51, MIM#619057 Intellectual disability optic atrophy Leigh-like syndrome Tags
Green List (high evidence)	RTN4IP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures Tags
Green List (high evidence)	SLC25A46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green List (high evidence)	SLC44A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood onset degeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green List (high evidence)	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2 Tags
Green List (high evidence)	SPG7	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes autosomal dominant optical atrophy Tags
Green List (high evidence)	SSBP1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Optic atrophy with or without extraocular phenotypes Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Tags
Green List (high evidence)	TMEM126A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Optic atrophy 7, MIM# 612989 MONDO:0013069 Tags
Green List (high evidence)	UCHL1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 79, autosomal recessive (MIM#615491) Tags
Green List (high evidence)	UFM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 14, MIM# 617899 Tags
Green List (high evidence)	WFS1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Wolfram syndrome 1, autosomal recessive, MIM# 222300 Wolfram-like syndrome, autosomal dominant, MIM#614296 Tags
Green List (high evidence)	ZNHIT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes PEHO syndrome, MIM# 260565 Tags founder
Amber List (moderate evidence)	AUH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type I, MIM# 250950 Tags
Amber List (moderate evidence)	CCDC88A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes PEHO syndrome-like, MIM#617507 Tags
Amber List (moderate evidence)	MCAT	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Optic atrophy 15, MIM# 620583 Tags
Amber List (moderate evidence)	MIR204	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Tags
Amber List (moderate evidence)	NDUFS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 5, 618226 Tags
Amber List (moderate evidence)	NDUFS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230 Tags
Amber List (moderate evidence)	PDSS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Tags
Amber List (moderate evidence)	PLAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527) Tags
Amber List (moderate evidence)	POLG	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 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 Tags
Amber List (moderate evidence)	SNF8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder plus optic atrophy, MIM# 620784 Tags
Amber List (moderate evidence)	TBCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Victorian Clinical Genetics Services Phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193 Tags
Amber List (moderate evidence)	TIMM50	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type IX (MIM#617698) Tags
Amber List (moderate evidence)	TIMM8A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mohr-Tranebjaerg syndrome (MIM#304700) Tags
Amber List (moderate evidence)	ZDHHC16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder MONDO:0700092, ZDHHC16-related Tags
Red List (low evidence)	MIEF1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Optic atrophy 14 (MIM#620550) Tags
Red List (low evidence)	MTPAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic ataxia 4, autosomal recessive 613672 Tags
Red List (low evidence)	NDUFA7	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Optic atrophy, MONDO:0003608, NDUFA7-related Tags
Red List (low evidence)	PBX1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Tags
Red List (low evidence)	SLC24A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary (complete), 1D, autosomal recessive 613830 Tags
Red List (low evidence)	UBA5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 44 (MIM#617132) Tags
Red List (low evidence)	YME1L1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Optic atrophy 11 MIM#617302 Tags

Optic Atrophy (Version 1.45)

18 reviewers

61 Entities

61 reviewed, 40 green

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