The latest signed off version for the GMS is v5.0. The current version, shown here, may differ from the signed-off version.

Optic neuropathy (Version 5.48)

Level 2: Ophthalmology

Relevant disorders: Inherited optic neuropathies, R41
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, GMS signed-off
Latest signed off version: v5.0 (30 Apr 2025)
Previously signed off versions: v4.0, v3.0, v2.2
Previous code: 553f95e2bb5a1616e5ed45c8

Description

This panel is used for clinical indication 'R41 Optic neuropathy' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R41 Optic neuropathy'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

Panel Activity

27 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Carl Fratter (Oxford University Hospitals NHS Trust)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Penny Clouston (Oxford)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Ellen Thomas (Genomics England Curator)

Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Panagiotis Sergouniotis (Academic Clinic Fellow)

Group: GeCIP domain
Workplace: NHS clinical service
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
BRIDGE consortium (NIHRBR-RD)

Group: Other
Workplace: Other
Neringa Jurkute (MD)

Group: Other NHS organisation
Workplace: NHS clinical service
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Konstantinos Varvagiannis (Other)

Group: Other
Workplace: Other clinical service
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Emily Jones (North Bristol NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Group: GeCIP domain
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Sara Martins (All Wales Medical Genomics Service)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Katherine Schon (University of Cambridge)

Group: GeCIP domain
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Hannah Knight (NIHR BioResource - University of Cambridge)

Group: Other
Workplace: Research lab
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

99 Entities

99 reviewed, 44 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 99 Entitiess
Green List (high evidence)	ACO2	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Other Phenotypes Infantile cerebellar-retinal degeneration, OMIM:614559 Infantile cerebellar-retinal degeneration, MONDO:0013802 ?Optic atrophy 9, OMIM:616289 Optic atrophy 9, MONDO:0014571 Tags
Green List (high evidence)	AFG3L2	4 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Optic atrophy 12, OMIM:618977 (AD) Spastic ataxia 5, autosomal recessive, OMIM:614487 (AR) Tags
Green List (high evidence)	ALPK1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Other Research Phenotypes ROSAH syndrome, OMIM:614979 Tags
Green List (high evidence)	ATG7	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 Tags
Green List (high evidence)	BORCS8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, OMIM:620987 Tags
Green List (high evidence)	BTD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Biotinidase deficiency, OMIM:253260 optic atrophy, MONDO:0003608 Tags
Green List (high evidence)	C12orf65	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Combined oxidative phosphorylation deficiency 7, OMIM:613559 Spastic paraplegia 55, autosomal recessive, OMIM:615035 Tags new-gene-name
Green List (high evidence)	C19orf12	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS Phenotypes ?Spastic paraplegia 43, autosomal recessive, OMIM:615043 Neurodegeneration with brain iron accumulation 4, OMIM: 614298 Tags
Green List (high evidence)	CISD2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes WOLFRAM SYNDROME 2, 604928 Tags
Green List (high evidence)	DNAJC30	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Leber-like hereditary optic neuropathy, autosomal recessive 1, MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1, OMIM:619382 Tags gene-checked
Green List (high evidence)	DNM1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH Phenotypes OPTIC ATROPHY 5, 610708 Tags
Green List (high evidence)	EPRS	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 15, MIM# 617951 Tags new-gene-name
Green List (high evidence)	FDXR	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Auditory neuropathy and optic atrophy, OMIM:617717 Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 Tags
Green List (high evidence)	HIKESHI	4 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Leukodystrophy, hypomyelinating, 13, OMIM:616881 Tags
Green List (high evidence)	HK1	8 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BRIDGE study SPEED NEURO Tier1 Gene Expert Review Green NHS GMS Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Tags
Green List (high evidence)	HSD17B10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature NHS GMS Phenotypes HSD10 mitochondrial disease, OMIM:300438 Tags
Green List (high evidence)	ISCA2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Multiple mitochondrial dysfunctions syndrome 4, OMIM:616370 optic atrophy, MONDO:0003608 Tags
Green List (high evidence)	LETM1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 Tags
Green List (high evidence)	LHX2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature NHS GMS Phenotypes neurodevelopmental disorder Tags gene-checked
Green List (high evidence)	MAG	6 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH NHS GMS Yorkshire and North East GLH Phenotypes Spastic paraplegia 75, autosomal recessive, OMIM:616680 Tags
Green List (high evidence)	MECR	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 Tags
Green List (high evidence)	MFF	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Phenotypes Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 Tags
Green List (high evidence)	MFN2	5 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green London North GLH Phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087 Hereditary motor and sensory neuropathy VIA, OMIM:601152 Tags
Green List (high evidence)	MIEF1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature NHS GMS Phenotypes Optic atrophy 14, OMIM:620550 optic atrophy 14, MONDO:0957824 Tags
Green List (high evidence)	MT-ATP6	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green London North GLH UKGTN Phenotypes Leber optic atrophy 535000 neurogenic weakness, ataxia, and retinitis pigmentosa retinopathy Tags gene-checked
Green List (high evidence)	MT-ND1	2 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green London North GLH UKGTN Phenotypes Optic neuropathy and nystagmus External ophthalmoplegia Leber's hereditary optic neuropathy Tags gene-checked
Green List (high evidence)	MT-ND4	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green London North GLH UKGTN Phenotypes Leber's hereditary optic neuropathy Tags gene-checked gene-therapy-trial
Green List (high evidence)	MT-ND6	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green London North GLH UKGTN Phenotypes Leber hereditary optic neuropathy Nystagmus severe infantile-onset complex I deficiency Tags gene-checked
Green List (high evidence)	NBAS	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Tags
Green List (high evidence)	NDUFA12	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS PanelApp South West GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 Tags
Green List (high evidence)	NR2F1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London North GLH Radboud University Medical Center, Nijmegen Phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722 Tags
Green List (high evidence)	OPA1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH NHS GMS Radboud University Medical Center, Nijmegen UKGTN Phenotypes Optic atrophy 1, OMIM:165500 Optic atrophy plus syndrome, OMIM:125250 Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896 Behr syndrome, OMIM:210000 Tags
Green List (high evidence)	OPA3	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH Radboud University Medical Center, Nijmegen Phenotypes Autosomal Dominant Optic Atrophy optic atrophy and cataracts Optic atrophy 3 with cataract Tags
Green List (high evidence)	PDXK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy, OMIM:618511 Tags
Green List (high evidence)	RTN4IP1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH Phenotypes early-onset recessive optic neuropathy Tags
Green List (high evidence)	SLC25A46	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature London North GLH Phenotypes Optic atrophy, MONDO:0003608 Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303, MONDO:0030260 Tags
Green List (high evidence)	SLC44A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, OMIM:618868 Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MONDO:0030028 Tags
Green List (high evidence)	SLC52A2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London North GLH Other Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867 Optic atrophy, MONDO:0003608 Tags treatable
Green List (high evidence)	SPG7	7 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Expert Review Green London North GLH NHS GMS Phenotypes Spastic paraplegia 7, autosomal recessive, OMIM:607259 hereditary spastic paraplegia 7, MONDO:0011803 Tags digenic Q1_26_expert_review Q1_26_MOI
Green List (high evidence)	SSBP1	5 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Optic atrophy 13 with retinal and foveal abnormalities OMIM:165510 Tags
Green List (high evidence)	TFG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Spastic paraplegia 57, autosomal recessive, OMIM:615658 Tags
Green List (high evidence)	TMEM126A	4 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert Expert Review Green Illumina TruGenome Clinical Sequencing Services London North GLH Radboud University Medical Center, Nijmegen Phenotypes Optic Atrophy, Recessive Optic atrophy 7, 612989 Tags founder-effect
Green List (high evidence)	UCHL1	4 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Spastic paraplegia 79B, autosomal recessive, OMIM:615491 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209 Spastic paraplegia 79A, autosomal dominant, OMIM:620221 Tags
Green List (high evidence)	WFS1	4 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Expert Review Green London North GLH Phenotypes Wolfram syndrome 1, OMIM:222300 Tags
Amber List (moderate evidence)	AP3B2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 48, OMIM:617276, MONDO:0015000 Tags watchlist
Amber List (moderate evidence)	ATAD3A	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH Phenotypes Harel-Yoon syndrome, OMIM:617183 Tags watchlist
Amber List (moderate evidence)	BLOC1S1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes severe intellectual disability severe global developmental delay epilepsy Tags gene-checked
Amber List (moderate evidence)	BORCS5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes arthrogryposis multiplex congenita, MONDO:0015168 neurodevelopmental disorder, MONDO:0700092 Tags
Amber List (moderate evidence)	CCT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, OMIM:621034 neurodevelopmental disorder with speech or visual impairment and brain hypomyelination, MONDO:0976125 Tags Q1_26_promote_green
Amber List (moderate evidence)	LRRC8C	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes TIMES syndrome, OMIM:621056 Tags
Amber List (moderate evidence)	MCAT	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes progressive autosomal recessive optic neuropathy Hereditary optic neuropathy, MONDO:0020249 Tags
Amber List (moderate evidence)	MT-ND2	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 Tags technical-limitations
Amber List (moderate evidence)	MT-ND3	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 Leber optic atrophy and dystonia, MONDO:0010772 Tags technical-limitations
Amber List (moderate evidence)	MT-ND4L	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 Tags technical-limitations
Amber List (moderate evidence)	MT-ND5	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes Leber hereditary optic neuropathy, MONDO:0010788 Tags technical-limitations
Amber List (moderate evidence)	MT-TK	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes MERRF syndrome, MONDO:0010790 optic atrophy, MONDO:0003608 Tags locus-type-rna-transfer technical-limitations
Amber List (moderate evidence)	MT-TL1	3 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes MELAS syndrome caused by mutation in MTTL1, MONDO:0800032 optic atrophy, MONDO:0003608 Tags locus-type-rna-transfer technical-limitations
Amber List (moderate evidence)	MT-TS2	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Amber Literature Tags locus-type-rna-transfer technical-limitations
Amber List (moderate evidence)	NDUFA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Research Phenotypes Mitochondrial complex I deficiency, nuclear type 12, OMIM:301020 Optic neuropathy, HP:0001138 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	NDUFA10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Research Phenotypes Mitochondrial complex I deficiency, nuclear type 22, OMIM:618243 mitochondrial complex I deficiency, nuclear type 22, MONDO:0032626 Optic neuropathy, HP:0001138 Tags Q4_25_NHS_review Q4_25_promote_green
Amber List (moderate evidence)	PDSS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Coenzyme Q10 deficiency, primary, 2, OMIM:614651 Tags watchlist
Amber List (moderate evidence)	POLG	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH Phenotypes PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1, 157640 PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1, 258450 Tags
Amber List (moderate evidence)	PPIB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Other Phenotypes optic atrophy, MONDO:0003608 Tags
Amber List (moderate evidence)	SDHA	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259 Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011 Cardiomyopathy, dilated, 1GG, OMIM:613642 Pheochromocytoma/paraganglioma syndrome 5, OMIM:614165 Tags
Amber List (moderate evidence)	SNF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes neurodevelopmental disorder, MONDO:0700092 optic atrophy, MONDO:0003608 Tags
Amber List (moderate evidence)	TIMM8A	4 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Emory Genetics Laboratory Expert Review Amber London North GLH Phenotypes deafness-dystonia-optic neuropathy syndrome Mohr-Tranebjaerg syndrome Tags
Red List (low evidence)	ALG3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id, 601110 Tags
Red List (low evidence)	AUH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950 Tags
Red List (low evidence)	DNAJC19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 610198 Tags
Red List (low evidence)	FXN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red List (low evidence)	GP1BA	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Radboud University Medical Center, Nijmegen Phenotypes {Nonarteritic anterior ischemic optic neuropathy, susceptibility to} Tags
Red List (low evidence)	INTS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 Tags
Red List (low evidence)	KIF7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes ACROCALLOSAL SYNDROME, 200990 Tags
Red List (low evidence)	LYST	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature London North GLH Phenotypes Optic neuropathy in late-onset neurodegenerative Chédiak–Higashi syndrome lacking features of ocular albinism Tags
Red List (low evidence)	MTPAP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE, 613672 Tags
Red List (low evidence)	NDUFS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Tags
Red List (low evidence)	NDUFS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 6, 618228 Tags
Red List (low evidence)	NDUFS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Mitochondrial complex I deficiency, nuclear type 8, 618230 Tags
Red List (low evidence)	NEFH	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London North GLH Phenotypes CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924 Tags
Red List (low evidence)	RAB3GAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes WARBURG MICRO SYNDROME 1, 600118 Tags
Red List (low evidence)	TBC1D20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes WARBURG MICRO SYNDROME 4 615663 Tags
Red List (low evidence)	TSFM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 610505 Tags
Red List (low evidence)	YME1L1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Optic atrophy 617302 sensorineural hearing impairment ataxia other CNS symptoms (OPA11) Tags
Red List (low evidence)	ZNHIT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH Phenotypes Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) 260565 Tags
Red List (low evidence)	ZPR1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 Tags founder-effect
No list	NDUFAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NDUFAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NDUFAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NDUFAF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NDUFB11	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NDUFS7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy optic atrophy LHON-like Tags
No list	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NDUFV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes Optic neuropathy, optic atrophy LHON-like Tags
No list	NSUN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Research Phenotypes optic neuropathy optic atrophy LHON LHON-like Tags
No list	OPA2	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed Other Phenotypes Optic atrophy 2, X-linked Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list	OPA4	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Other Phenotypes Optic atrophy 4 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list	OPA5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Other Phenotypes Optic atrophy 5 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list	OPA6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Other Phenotypes Optic atrophy 6 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only
No list	OPA8	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Other Phenotypes Optic atrophy 8 616648 Tags curated_removed ensembl_ids_known_missing locus-type-phenotype-only

Major version comments

2025-04-30 16:44 Eleanor Williams (Genomics England Curator) promoted panel to 5.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (5.0) following this.

2023-03-22 15:31 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:39 Arina Puzriakova (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-10-02 14:24 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.119) was signed off under NHS Genomic Medicine Service governance on (02/10/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.

Optic neuropathy (Version 5.48)

27 reviewers

99 Entities

99 reviewed, 44 green

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3 reviews

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2 reviews

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