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Optic Atrophy v1.32 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Developmental and epileptic encephalopathy 115, MIM#620783 to Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Optic Atrophy v1.31 SNF8 Zornitza Stark edited their review of gene: SNF8: Changed phenotypes: Neurodevelopmental disorder plus optic atrophy, MIM# 620784
Optic Atrophy v1.31 SNF8 Zornitza Stark Phenotypes for gene: SNF8 were changed from Neurodevelopmental disorder (MONDO:0700092), SNF8-related to Developmental and epileptic encephalopathy 115, MIM#620783
Optic Atrophy v1.30 SNF8 Zornitza Stark edited their review of gene: SNF8: Changed rating: AMBER
Optic Atrophy v1.30 SNF8 Zornitza Stark reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.30 SNF8 Elena Savva Marked gene: SNF8 as ready
Optic Atrophy v1.30 SNF8 Elena Savva Gene: snf8 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.30 SNF8 Elena Savva Classified gene: SNF8 as Amber List (moderate evidence)
Optic Atrophy v1.30 SNF8 Elena Savva Gene: snf8 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.29 SNF8 Chern Lim gene: SNF8 was added
gene: SNF8 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to Neurodevelopmental disorder (MONDO:0700092), SNF8-related
Review for gene: SNF8 was set to AMBER
gene: SNF8 was marked as current diagnostic
Added comment: PMID: 38423010
- Nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8. In total, three putative LoF variants and four missense variants were identified.
- The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous.
- Three of the patients (from two families) with the milder phenotype also have optic atrophy.

- Functional studies using fibroblasts derived from patients and zebrafish model showed LoF is the disease mech.
Sources: Literature
Optic Atrophy v1.29 ACO2 Zornitza Stark Publications for gene: ACO2 were set to 25351951; 22405087
Optic Atrophy v1.28 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic Atrophy v1.27 ACO2 Rylee Peters reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34056600; Phenotypes: Optic atrophy 9, MIM# 616289; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic Atrophy v1.27 SPG7 Elena Savva commented on gene: SPG7: PMID: 32548275 - fs reported in AD optic atrophy where in NMD-predicted regions of the protein, were either isolated cases (1 proband) or segregated in a single family (2 affected).
**Several families with missense variants had more extensive segregation within families, and one was de novo - this is in ANOTHER gene, NOT SPG7
Optic Atrophy v1.27 BORCS8 Zornitza Stark Marked gene: BORCS8 as ready
Optic Atrophy v1.27 BORCS8 Zornitza Stark Gene: borcs8 has been classified as Green List (High Evidence).
Optic Atrophy v1.27 BORCS8 Zornitza Stark Classified gene: BORCS8 as Green List (high evidence)
Optic Atrophy v1.27 BORCS8 Zornitza Stark Gene: borcs8 has been classified as Green List (High Evidence).
Optic Atrophy v1.26 BORCS8 Lauren Rogers changed review comment from: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants.

HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.
Sources: Literature; to: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants. 5/5 hypotonia, failure to thrive, global developmental delay, profound intellectual disability, muscle weakness and atrophy, dysmorphic features. 3/5 with microcephaly, 3/5 with seizures, 4/5 with spasticity, 3/5 with scoliosis, 4/4 with optic atrophy.

HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.
Sources: Literature
Optic Atrophy v1.26 BORCS8 Lauren Rogers gene: BORCS8 was added
gene: BORCS8 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to Neurodevelopmental disorder (MONDO#0700092), BORCS8-related
Review for gene: BORCS8 was set to GREEN
Added comment: 3 unrelated families with five affected children with homozygous or compound heterozygous loss of function missense and PTC variants.

HEK293T cells show the missense variants are expressed at normal levels but exhibit reduced assembly with other BORC subunits and reduced ability to drive lysosome distribution. The BORCS8 PTC frameshift variant is expressed at lower levels and is completely incapable of assembling with other BORC subunits and promoting lysosome distribution. Zebrafish KO of the orthologous brocs8 causes decreased brain and eye size, neuromuscular anomalies and impaired locomotion, recapitulating some of the key traits of the human disease.
Sources: Literature
Optic Atrophy v1.26 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Optic atrophy 16, MIM# 620629
Optic Atrophy v1.25 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 16, MIM# 620629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.25 MCAT Zornitza Stark Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Optic atrophy 15, MIM# 620583
Optic Atrophy v1.24 MCAT Zornitza Stark edited their review of gene: MCAT: Changed phenotypes: Optic atrophy 15, MIM# 620583
Optic Atrophy v1.24 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228 to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569
Optic Atrophy v1.23 NDUFS2 Zornitza Stark reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252; Phenotypes: Leber hereditary optic neuropathy, autosomal recessive 2, MIM# 620569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.23 MIEF1 Seb Lunke Marked gene: MIEF1 as ready
Optic Atrophy v1.23 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Optic Atrophy v1.23 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Optic Atrophy v1.23 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Optic Atrophy v1.23 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Optic Atrophy v1.22 MIEF1 Lucy Spencer gene: MIEF1 was added
gene: MIEF1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIEF1 were set to 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variant in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.

Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: Literature
Optic Atrophy v1.22 HIKESHI Zornitza Stark Marked gene: HIKESHI as ready
Optic Atrophy v1.22 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Optic Atrophy v1.22 HIKESHI Zornitza Stark Classified gene: HIKESHI as Green List (high evidence)
Optic Atrophy v1.22 HIKESHI Zornitza Stark Gene: hikeshi has been classified as Green List (High Evidence).
Optic Atrophy v1.21 HIKESHI Zornitza Stark gene: HIKESHI was added
gene: HIKESHI was added to Optic Atrophy. Sources: Expert list
Mode of inheritance for gene: HIKESHI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIKESHI were set to 34111619; 26545878
Phenotypes for gene: HIKESHI were set to Leukodystrophy, hypomyelinating, 13, MIM# 616881
Review for gene: HIKESHI was set to GREEN
Added comment: Over 10 individuals reported with recurrent homozygous c.160G>C;p.(Val54Leu) variant, high carrier frequency in the Ashkenazi Jewish population. Optic atrophy reported in several.
Sources: Expert list
Optic Atrophy v1.20 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Optic Atrophy v1.20 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Optic Atrophy v1.20 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Optic Atrophy v1.20 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Optic Atrophy v1.19 PTCD3 Zornitza Stark gene: PTCD3 was added
gene: PTCD3 was added to Optic Atrophy. Sources: Expert list
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859; 36450274
Phenotypes for gene: PTCD3 were set to Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to GREEN
Added comment: Four families reported plus functional data. Optic atrophy is a feature.
Sources: Expert list
Optic Atrophy v1.18 MIR204 Elena Savva Marked gene: MIR204 as ready
Optic Atrophy v1.18 MIR204 Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.18 MIR204 Elena Savva Classified gene: MIR204 as Amber List (moderate evidence)
Optic Atrophy v1.18 MIR204 Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.17 MIR204 Chern Lim gene: MIR204 was added
gene: MIR204 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR204 were set to 26056285; 37321975
Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722)
Mode of pathogenicity for gene: MIR204 was set to Other
Review for gene: MIR204 was set to GREEN
gene: MIR204 was marked as current diagnostic
Added comment: PMID: 26056285
- Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family.
- Heterozygous n.37C>T segregates with the disease in all affected individuals.
- Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family.
- Authors suggested gain of function is the likely disease mechanism.

PMID: 37321975
- Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T.
- Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants.
- Haplotype analysis excluded relatedness with the family reported in PMID: 26056285.
- In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant.
Sources: Literature
Optic Atrophy v1.17 NDUFA12 Suliman Khan changed review comment from: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356.
Sources: Literature; to: 9 individuals form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356.
Sources: Literature
Optic Atrophy v1.17 NDUFA12 Zornitza Stark Marked gene: NDUFA12 as ready
Optic Atrophy v1.17 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence).
Optic Atrophy v1.17 NDUFA12 Zornitza Stark Classified gene: NDUFA12 as Green List (high evidence)
Optic Atrophy v1.17 NDUFA12 Zornitza Stark Gene: ndufa12 has been classified as Green List (High Evidence).
Optic Atrophy v1.16 NDUFA12 Suliman Khan changed review comment from: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients have optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356.
Sources: Literature; to: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients had optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356.
Sources: Literature
Optic Atrophy v1.16 NDUFA12 Suliman Khan gene: NDUFA12 was added
gene: NDUFA12 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to PMID: 35141356
Phenotypes for gene: NDUFA12 were set to isolated optic atrophy; MONDO:0003608
Review for gene: NDUFA12 was set to GREEN
Added comment: 9 individual form 6 unrelated families presented with movement disorder phenotypes (dystonia and/or spasticity) to isolated optic atrophy. Basal ganglia abnormalities were observed in 6 patients, two patients have optic atrophy, and one was unremarkable. All patients carried homozygous truncating variants in the NDUFA12 gene PMID: 35141356.
Sources: Literature
Optic Atrophy v1.16 MCAT Seb Lunke Phenotypes for gene: MCAT were changed from Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309 to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309
Optic Atrophy v1.15 MCAT Seb Lunke Phenotypes for gene: MCAT were changed from progressive autosomal recessive optic neuropathy to Leber hereditary optic neuropathy, autosomal recessive, MONDO:0030309
Optic Atrophy v1.14 MCAT Seb Lunke Classified gene: MCAT as Amber List (moderate evidence)
Optic Atrophy v1.14 MCAT Seb Lunke Gene: mcat has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.13 MCAT Seb Lunke Publications for gene: MCAT were set to 31915829
Optic Atrophy v1.12 MCAT Belinda Chong reviewed gene: MCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 33918393, 31915829; Phenotypes: Progressive autosomal recessive optic neuropathy, Leber hereditary optic neuropathy (LHON)-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.12 SPG7 Elena Savva reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275, 36367250, 35243150; Phenotypes: Optical atrophy MONDO#0003608); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v1.12 Zornitza Stark HPO terms changed from to Optic atrophy, HP:0000648
List of related panels changed from to Optic atrophy; HP:0000648
Optic Atrophy v1.11 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Optic Atrophy v1.10 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.10 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Optic Atrophy v1.10 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Optic Atrophy v1.10 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Optic Atrophy v1.9 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Optic Atrophy v1.9 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to 29735986; 23359680; 28007905
Optic Atrophy v1.8 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v1.7 UCHL1 Zornitza Stark reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28007905, 23359680, 11555633, 35986737; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM#615491, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Amber List (moderate evidence)
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Green List (high evidence)
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Optic Atrophy v1.5 NDUFS3 Krithika Murali gene: NDUFS3 was added
gene: NDUFS3 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS3 were set to 22499348; 30140060; 14729820; 33097395
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Review for gene: NDUFS3 was set to AMBER
Added comment: 4 unrelated families reported with supportive functional evidence. Leigh-syndrome phenotype reported with features suggestive of optic atrophy described in one patient.

--

PMID 22499348 - report one individual with homozygous variants and developmental delay, muscular hypotonia, lactic acidosis, rapid progression of disease.

PMID 30140060 - report one individual with compound het variants and Leigh-syndrome phenotype. MRI-B showed a high T2 signal intensity in the white matter of hemispheres, basal ganglia and brain stem with progressive changes. Patient deceased age 2.

PMID 14729820 - report one individual with compound het variant and affected foetus. The proband presented at the age of 9 with persistent stiff neck. MRI-B age 10 detected high T2 signal intensity in the putamen, white matter and brainstem. Also had features of optic nerve atrophy and later developed acute pancreatitis, severe respiratory insufficiency and died age 13 after rapid multisystem deterioration.

PMID 33097395 - report one adult patient with compound-het variants and Leigh Syndrome features
Sources: Literature
Optic Atrophy v1.5 NDUFS2 Krithika Murali gene: NDUFS2 was added
gene: NDUFS2 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS2 were set to 28031252; 31411514; 22036843; 20819849; 11220739; 23266820; 31411514
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Review for gene: NDUFS2 was set to GREEN
Added comment: PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression.

PMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.

PMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.

PMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy

PMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features.
Sources: Literature
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Marked gene: ANTXR1 as ready
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Classified gene: ANTXR1 as Green List (high evidence)
Optic Atrophy v1.5 ANTXR1 Zornitza Stark Gene: antxr1 has been classified as Green List (High Evidence).
Optic Atrophy v1.4 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANTXR1 were set to 23602711; 25045128; 31425299; 30575274; 29436111; 28870703
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, MIM# 230740
Review for gene: ANTXR1 was set to GREEN
Added comment: GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy. Optic atrophy is not a consistent feature. At least 10 unrelated families reported.
Sources: Expert Review
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Marked gene: ZNHIT3 as ready
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Classified gene: ZNHIT3 as Green List (high evidence)
Optic Atrophy v1.3 ZNHIT3 Zornitza Stark Gene: znhit3 has been classified as Green List (High Evidence).
Optic Atrophy v1.2 ZNHIT3 Zornitza Stark gene: ZNHIT3 was added
gene: ZNHIT3 was added to Optic Atrophy. Sources: Literature
founder tags were added to gene: ZNHIT3.
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, MIM# 260565
Review for gene: ZNHIT3 was set to GREEN
Added comment: PEHO is a severe autosomal recessive neurodevelopmental disorder characterized by extreme cerebellar atrophy due to almost total loss of granule neurons. Affected individuals present in early infancy with hypotonia, profoundly delayed psychomotor development, optic atrophy, progressive atrophy of the cerebellum and brainstem, and dysmyelination. Most patients also develop infantile seizures that are often associated with hypsarrhythmia on EEG, and many have peripheral oedema. More than 20 affected individuals reported of Finnish origin, p.Ser31Leu is a founder variant. One compound het reported and supportive animal model.
Sources: Literature
Optic Atrophy v1.0 Zornitza Stark promoted panel to version 1.0
Optic Atrophy v0.140 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Optic Atrophy v0.140 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Optic Atrophy v0.140 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000
Optic Atrophy v0.139 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.138 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy 1 165500, Optic atrophy plus syndrome, MIM# 125250, Behr syndrome, MIM# 210000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.138 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Optic Atrophy v0.138 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Optic Atrophy v0.138 TMEM126A Zornitza Stark Phenotypes for gene: TMEM126A were changed from to Optic atrophy 7, MIM# 612989; MONDO:0013069
Optic Atrophy v0.137 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to
Optic Atrophy v0.136 TMEM126A Zornitza Stark Mode of inheritance for gene: TMEM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.135 TMEM126A Zornitza Stark reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19327736, 20405026, 22815638, 33879611, 31119195, 30961538; Phenotypes: Optic atrophy 7, MIM# 612989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.135 ATG7 Zornitza Stark changed review comment from: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature; to: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The more severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Optic Atrophy v0.135 ATG7 Zornitza Stark Marked gene: ATG7 as ready
Optic Atrophy v0.135 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.135 ATG7 Zornitza Stark Classified gene: ATG7 as Green List (high evidence)
Optic Atrophy v0.135 ATG7 Zornitza Stark Gene: atg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.134 ATG7 Zornitza Stark gene: ATG7 was added
gene: ATG7 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, SCAR31, MIM#619422
Review for gene: ATG7 was set to GREEN
Added comment: 12 individuals from 5 unrelated families reported with a complex neurodevelopmental disorder and bi-allelic variants in this gene. Age range from 21 months to 71 years of age. Main clinical features included axial hypotonia, variably impaired intellectual development with poor or absent speech, and delayed walking (up to 7 years of age) or inability to walk. All had ataxia, often with tremor or dyskinesia, as well as dysarthria associated with cerebellar hypoplasia on brain imaging. Most had optic atrophy, and some had ptosis, chronic progressive external ophthalmoplegia, retinopathy, and strabismus; 1 had early-onset cataracts. The ore severely affected individuals had spastic paraplegia and inability to walk.

Functional data including mouse model.
Sources: Literature
Optic Atrophy v0.133 DNAJC30 Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Optic Atrophy v0.132 DNAJC30 Zornitza Stark edited their review of gene: DNAJC30: Changed phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382
Optic Atrophy v0.132 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB (MIM#616505) to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Pontocerebellar hypoplasia, type 1E, MIM# 619303
Optic Atrophy v0.131 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1E, MIM# 619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.131 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Optic Atrophy v0.131 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.131 PDXK Bryony Thompson Publications for gene: PDXK were set to 31187503
Optic Atrophy v0.130 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Optic Atrophy v0.130 PDXK Bryony Thompson Added comment: Comment on list classification: Additional family identified
Optic Atrophy v0.130 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Optic Atrophy v0.128 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Optic Atrophy v0.128 SPG7 Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants are associated with spastic paraplegia.
Optic Atrophy v0.128 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.128 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to autosomal dominant optical atrophy
Optic Atrophy v0.127 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Optic Atrophy v0.126 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.125 SPG7 Teresa Zhao reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275; Phenotypes: autosomal dominant optical atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Optic Atrophy v0.125 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Optic Atrophy v0.124 DNAJC30 Zornitza Stark gene: DNAJC30 was added
gene: DNAJC30 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases). All three variants absent from gnomAD. Incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations. All 3 variants in the J domain of the protein. Functional evidence.
Sources: Literature
Optic Atrophy v0.123 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Optic Atrophy v0.123 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.123 PDSS1 Zornitza Stark Classified gene: PDSS1 as Amber List (moderate evidence)
Optic Atrophy v0.123 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.122 PDSS1 Zornitza Stark gene: PDSS1 was added
gene: PDSS1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDSS1 were set to 33285023
Phenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM# 614651
Review for gene: PDSS1 was set to AMBER
Added comment: Two families reported where optic atrophy and deafness are part of the phenotype.
Sources: Literature
Optic Atrophy v0.121 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Optic Atrophy v0.121 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Optic Atrophy v0.121 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Optic Atrophy v0.120 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Optic Atrophy v0.119 OPA3 Zornitza Stark Mode of pathogenicity for gene: OPA3 was changed from to Other
Optic Atrophy v0.118 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic Atrophy v0.117 OPA3 Teresa Zhao reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Optic Atrophy v0.117 NR2F1 Zornitza Stark Marked gene: NR2F1 as ready
Optic Atrophy v0.117 NR2F1 Zornitza Stark Gene: nr2f1 has been classified as Green List (High Evidence).
Optic Atrophy v0.117 NR2F1 Zornitza Stark Publications for gene: NR2F1 were set to
Optic Atrophy v0.116 NR2F1 Zornitza Stark Phenotypes for gene: NR2F1 were changed from to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722
Optic Atrophy v0.115 NR2F1 Zornitza Stark Mode of inheritance for gene: NR2F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.114 NR2F1 Zornitza Stark reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32275123; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM# 615722; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.114 SSBP1 Zornitza Stark Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Optic Atrophy v0.113 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None
Optic Atrophy v0.113 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.112 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Optic atrophy 12, MIM# 618977
Optic Atrophy v0.111 AFG3L2 Zornitza Stark edited their review of gene: AFG3L2: Changed rating: GREEN; Changed phenotypes: Optic atrophy 12, MIM# 618977; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.111 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)
Optic Atrophy v0.110 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to 29181157; 26539208; 30252181; 30389403
Optic Atrophy v0.109 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.108 AFG3L2 Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Autosomal dominant optic atrophy, Autosomal recessive spastic ataxia 5, MIM#614487, Autosomal dominant spinocerebellar ataxia 28, MIM#610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Optic Atrophy v0.108 AFG3L2 Chern Lim Deleted their review
Optic Atrophy v0.108 AFG3L2 Chern Lim reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32219868, 32600459, 32548275; Phenotypes: Optic atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Optic Atrophy v0.108 YME1L1 Zornitza Stark Marked gene: YME1L1 as ready
Optic Atrophy v0.108 YME1L1 Zornitza Stark Gene: yme1l1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.108 YME1L1 Bryony Thompson gene: YME1L1 was added
gene: YME1L1 was added to Optic Atrophy. Sources: Expert list
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YME1L1 were set to 27495975
Phenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302
Review for gene: YME1L1 was set to RED
Added comment: Single family reported with optic atrophy
Sources: Expert list
Optic Atrophy v0.107 PDXK Zornitza Stark Marked gene: PDXK as ready
Optic Atrophy v0.107 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.107 PDXK Zornitza Stark Classified gene: PDXK as Amber List (moderate evidence)
Optic Atrophy v0.107 PDXK Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.106 PDXK Zornitza Stark gene: PDXK was added
gene: PDXK was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDXK were set to 31187503
Phenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy
Review for gene: PDXK was set to AMBER
Added comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation.
Sources: Literature
Optic Atrophy v0.105 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Optic Atrophy v0.104 KLC2 Bryony Thompson Marked gene: KLC2 as ready
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.104 KLC2 Bryony Thompson Classified gene: KLC2 as Green List (high evidence)
Optic Atrophy v0.104 KLC2 Bryony Thompson Added comment: Comment on list classification: Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.
Optic Atrophy v0.104 KLC2 Bryony Thompson Gene: klc2 has been classified as Green List (High Evidence).
Optic Atrophy v0.103 KLC2 Bryony Thompson gene: KLC2 was added
gene: KLC2 was added to Optic Atrophy. Sources: Literature
SV/CNV tags were added to gene: KLC2.
Mode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLC2 were set to 26385635
Phenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541
Review for gene: KLC2 was set to GREEN
Added comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Optic atrophy is a feature of the condition.
Sources: Literature
Optic Atrophy v0.102 MCAT Zornitza Stark Marked gene: MCAT as ready
Optic Atrophy v0.102 MCAT Zornitza Stark Gene: mcat has been classified as Red List (Low Evidence).
Optic Atrophy v0.102 MCAT Zornitza Stark gene: MCAT was added
gene: MCAT was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCAT were set to 31915829
Phenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy
Review for gene: MCAT was set to RED
Added comment: Single family reported.
Sources: Literature
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Marked gene: SLC44A1 as ready
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Classified gene: SLC44A1 as Green List (high evidence)
Optic Atrophy v0.101 SLC44A1 Zornitza Stark Gene: slc44a1 has been classified as Green List (High Evidence).
Optic Atrophy v0.100 SLC44A1 Zornitza Stark gene: SLC44A1 was added
gene: SLC44A1 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: SLC44A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC44A1 were set to 31855247
Phenotypes for gene: SLC44A1 were set to Childhood onset degeneration; progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria
Review for gene: SLC44A1 was set to GREEN
Added comment: Four affected individuals from three families with homozygous frameshift variants. Functional evidence points to impaired choline transporter function yet unchanged membrane phosphatidylcholine content. Choline treatments may be beneficial.
Sources: Literature
Optic Atrophy v0.99 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Optic Atrophy v0.99 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Optic Atrophy v0.99 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Optic Atrophy v0.99 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Optic Atrophy v0.99 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from to 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
Optic Atrophy v0.98 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.97 MFN2 Zornitza Stark reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; 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; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.97 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Optic Atrophy v0.97 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Optic Atrophy v0.97 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Optic atrophy 9, MIM# 616289; Infantile cerebellar-retinal degeneration, MIM# 614559
Optic Atrophy v0.96 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Optic Atrophy v0.95 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.94 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, MIM# 616289, Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.94 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296 to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Optic Atrophy v0.93 WFS1 Zornitza Stark Marked gene: WFS1 as ready
Optic Atrophy v0.93 WFS1 Zornitza Stark Gene: wfs1 has been classified as Green List (High Evidence).
Optic Atrophy v0.93 WFS1 Zornitza Stark Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296
Optic Atrophy v0.92 WFS1 Zornitza Stark Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.91 WFS1 Zornitza Stark reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, autosomal recessive, MIM# 222300, Wolfram-like syndrome, autosomal dominant 61, MIM#4296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Optic Atrophy v0.91 SSBP1 Zornitza Stark Marked gene: SSBP1 as ready
Optic Atrophy v0.91 SSBP1 Zornitza Stark Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.91 TBCD Zornitza Stark Marked gene: TBCD as ready
Optic Atrophy v0.91 TBCD Zornitza Stark Gene: tbcd has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.91 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Optic Atrophy v0.90 TBCD Zornitza Stark Publications for gene: TBCD were set to
Optic Atrophy v0.89 TBCD Zornitza Stark Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.88 TBCD Zornitza Stark Classified gene: TBCD as Amber List (moderate evidence)
Optic Atrophy v0.88 TBCD Zornitza Stark Gene: tbcd has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.87 TBCD Zornitza Stark changed review comment from: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy.
Sources: Expert Review; to: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Optic atrophy is not a consistent or prominent feature of this disorder.
Sources: Expert Review
Optic Atrophy v0.87 TBCD Zornitza Stark edited their review of gene: TBCD: Changed rating: AMBER
Optic Atrophy v0.87 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Optic Atrophy v0.86 PLAA Zornitza Stark Marked gene: PLAA as ready
Optic Atrophy v0.86 PLAA Zornitza Stark Gene: plaa has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.86 PLAA Zornitza Stark Phenotypes for gene: PLAA were changed from to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)
Optic Atrophy v0.85 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Optic Atrophy v0.85 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Optic Atrophy v0.85 PLAA Zornitza Stark Publications for gene: PLAA were set to
Optic Atrophy v0.84 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Optic Atrophy v0.84 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Optic Atrophy v0.84 RTN4IP1 Zornitza Stark Classified gene: RTN4IP1 as Green List (high evidence)
Optic Atrophy v0.84 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Optic Atrophy v0.83 PBX1 Zornitza Stark Marked gene: PBX1 as ready
Optic Atrophy v0.83 PBX1 Zornitza Stark Added comment: Comment when marking as ready: Agree, cannot find evidence of association with OA.
Optic Atrophy v0.83 PBX1 Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.83 PLAA Zornitza Stark Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.82 PLAA Zornitza Stark Classified gene: PLAA as Amber List (moderate evidence)
Optic Atrophy v0.82 PLAA Zornitza Stark Gene: plaa has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.81 PBX1 Zornitza Stark Phenotypes for gene: PBX1 were changed from to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Optic Atrophy v0.80 MFF Zornitza Stark Marked gene: MFF as ready
Optic Atrophy v0.80 MFF Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder.
Optic Atrophy v0.80 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Optic Atrophy v0.80 MFF Zornitza Stark Classified gene: MFF as Green List (high evidence)
Optic Atrophy v0.80 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Optic Atrophy v0.79 SLC52A2 Zornitza Stark Classified gene: SLC52A2 as Green List (high evidence)
Optic Atrophy v0.79 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Optic Atrophy v0.78 FDXR Zornitza Stark Marked gene: FDXR as ready
Optic Atrophy v0.78 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Optic Atrophy v0.78 PBX1 Zornitza Stark Publications for gene: PBX1 were set to
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Added comment: Comment when marking as ready: Please note OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.
Optic Atrophy v0.77 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Optic Atrophy v0.77 PBX1 Zornitza Stark Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.77 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717
Optic Atrophy v0.76 PBX1 Zornitza Stark Classified gene: PBX1 as Red List (low evidence)
Optic Atrophy v0.76 PBX1 Zornitza Stark Gene: pbx1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.75 FDXR Zornitza Stark Publications for gene: FDXR were set to
Optic Atrophy v0.74 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.73 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)
Optic Atrophy v0.72 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Optic Atrophy v0.72 TIMM8A Zornitza Stark Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.72 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome (MIM#304700)
Optic Atrophy v0.71 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Optic Atrophy v0.70 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.69 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Optic Atrophy v0.68 C19orf12 Zornitza Stark Marked gene: C19orf12 as ready
Optic Atrophy v0.68 C19orf12 Zornitza Stark Added comment: Comment when marking as ready: OA associated both with mono-allelic and bi-allelic variants in this gene, and has been reported in families both with SPG and NBIA.
Optic Atrophy v0.68 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Optic Atrophy v0.68 C19orf12 Zornitza Stark Classified gene: C19orf12 as Green List (high evidence)
Optic Atrophy v0.68 C19orf12 Zornitza Stark Gene: c19orf12 has been classified as Green List (High Evidence).
Optic Atrophy v0.67 TIMM8A Zornitza Stark Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic Atrophy v0.66 TIMM8A Zornitza Stark Classified gene: TIMM8A as Amber List (moderate evidence)
Optic Atrophy v0.66 TIMM8A Zornitza Stark Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.65 POLG Zornitza Stark Marked gene: POLG as ready
Optic Atrophy v0.65 POLG Zornitza Stark Added comment: Comment when marking as ready: Note there is only evidence for association between bi-allelic variants and OA, and even so, the evidence is limited.
Optic Atrophy v0.65 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.65 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to 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 v0.64 POLG Zornitza Stark Publications for gene: POLG were set to
Optic Atrophy v0.63 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.62 POLG Zornitza Stark Classified gene: POLG as Amber List (moderate evidence)
Optic Atrophy v0.62 POLG Zornitza Stark Gene: polg has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.61 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Optic Atrophy v0.61 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Optic Atrophy v0.61 DNM1L Zornitza Stark Classified gene: DNM1L as Green List (high evidence)
Optic Atrophy v0.61 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Optic Atrophy v0.60 DNM1L Crystle Lee gene: DNM1L was added
gene: DNM1L was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: DNM1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNM1L were set to 28969390; 30850373; 17460227
Phenotypes for gene: DNM1L were set to Optic atrophy 5 (MIM#610708)
Mode of pathogenicity for gene: DNM1L was set to Other
Review for gene: DNM1L was set to GREEN
Added comment: Reported in patients with isolated OA and as a feature of a multisystem disorder

PMID: 28969390; Gerber 2017: 2 different variants reported in 3 large families with isolated DOA. Functional studies shown to exert dominant-negative effect
PMID: 30850373; Assia 2019: Optic atrophy reported as a feature in a patient with a de novo missense. (reported gene as DLP1)
PMID: 17460227; Waterham 2007; Optic atrophy reported as a feature in 1 patient
Sources: Expert Review
Optic Atrophy v0.60 POLG Elena Savva reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31613174, 20142534, 30395865; 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 dominant 1 157640, Progressive external ophthalmoplegia, autosomal recessive 1 258450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 TIMM8A Crystle Lee edited their review of gene: TIMM8A: Added comment: TIMM8A causes Mohr–Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome.
Optic atrophy does not appear to be a major or consistent feature

PMID: 31903733; Neighbors 2020: Patient reported did not show optic neuropathy or retinal involvement
PMID: 30634948; Wang 2019: Reported 3 unrelated families, no signs of optic atrophy
PMID: 22736418; Ha 2012: Only 1 of 3 family showed optic atrophy; Changed phenotypes: Mohr-Tranebjaerg syndrome (MIM#304700)
Optic Atrophy v0.60 TIMM8A Crystle Lee reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31903733, 30634948, 22736418; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Optic Atrophy v0.60 C19orf12 Elena Savva gene: C19orf12 was added
gene: C19orf12 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to PMID: 22584950; 21981780; 23857908
Phenotypes for gene: C19orf12 were set to ?Spastic paraplegia 43, autosomal recessive 61504; Neurodegeneration with brain iron accumulation 4 614298
Review for gene: C19orf12 was set to GREEN
Added comment: PMID: 22584950 - reports three patients (two families). Two sibs from one family (chet missense with inframe deletion) did NOT have optic atrophy, the third patient did (chet frameshift with the same inframe deletion). Patients had NBIA.

PMID: 21981780 - optic atrophy described as a "common finding".
19 families reported, optic atrophy was a feature in all familial cases (4/4), and most simplex cases (12/15)
Patients were reported with both bilallelic and monoallelic genotypes. Patients had NBIA.

PMID: 23857908 - 1 family with optic atrophy and SPG43. Same variant reported in an NBIA family
Sources: Expert Review
Optic Atrophy v0.60 AFG3L2 Crystle Lee changed review comment from: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss; to: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss
Optic Atrophy v0.60 AFG3L2 Crystle Lee edited their review of gene: AFG3L2: Changed publications: 29181157, 26539208, 30252181, 30389403
Optic Atrophy v0.60 AFG3L2 Crystle Lee reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 FDXR Elena Savva reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30250212, 28965846; Phenotypes: Auditory neuropathy and optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 PBX1 Elena Savva changed review comment from: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype; to: PMID: 29036646 - 8 patients reported with both missense and PTCs. No indication in any patient of an eye-related phenotype

Looked for other papers/databases, no indication of this gene causing an eye phenotype. Some papers discuss developmental biology (PMID: 19797217) in mice, but no patients as of yet reported.
Optic Atrophy v0.60 PBX1 Elena Savva reviewed gene: PBX1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29036646; Phenotypes: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 SLC52A2 Elena Savva gene: SLC52A2 was added
gene: SLC52A2 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC52A2 were set to PMID: 22864630; 29961509; 30377535; 29287867
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Review for gene: SLC52A2 was set to GREEN
Added comment: PMID: 22864630 - 1 child with optic atrophy. She has biallelic chet missense, functional studies confirm a loss of function consequence.

PMID: 23243084 - reported by PanelApp UK but no patient observed with optic atrophy

PMID: 29961509 - 1 family (two siblings) with optic atrophy and a homozygous missense.

PMID: 30377535 - Described optic atrophy as a "typical" common feature of riboflavin transporter deficiency

PMID: 29287867 - A Iranian family (3 sibs) with a homozygous missense and optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 MFF Elena Savva gene: MFF was added
gene: MFF was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: MFF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MFF were set to PMID: 26783368; 22499341; 30581454
Phenotypes for gene: MFF were set to Encephalopathy due to defective mitochondrial and peroxisomal fission 2
Penetrance for gene: MFF were set to unknown
Review for gene: MFF was set to GREEN
Added comment: PMID: 26783368 - 2 fams with bilallelic PTCs with optic atrophy

PMID: 22499341 - 1 fam with bilallelic PTCs with optic atrophy

PMID: 30581454 - 1 patient with bilallelic PTCs with optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 PLAA Crystle Lee reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: None; Publications: 28413018, 28007986; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.60 RTN4IP1 Elena Savva gene: RTN4IP1 was added
gene: RTN4IP1 was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RTN4IP1 were set to PMID: 26593267; 31077085
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Penetrance for gene: RTN4IP1 were set to unknown
Review for gene: RTN4IP1 was set to GREEN
Added comment: PMID: 26593267 - 4 families with hom missense or chet w/ PTCs and optic atrophy
PMID: 31077085 - 1 fam (2 chet sibs) w/ missense and PTC and optic atrophy
Sources: Expert Review
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Marked gene: SLC24A1 as ready
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Added comment: Comment when marking as ready: Agree, I can only find association with retinal disease, not optic atrophy.
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.60 SLC24A1 Zornitza Stark Phenotypes for gene: SLC24A1 were changed from to Night blindness, congenital stationary (complete), 1D, autosomal recessive; 613830
Optic Atrophy v0.59 SLC24A1 Zornitza Stark Publications for gene: SLC24A1 were set to
Optic Atrophy v0.58 SLC24A1 Zornitza Stark Mode of inheritance for gene: SLC24A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.57 SLC24A1 Zornitza Stark Classified gene: SLC24A1 as Red List (low evidence)
Optic Atrophy v0.57 SLC24A1 Zornitza Stark Gene: slc24a1 has been classified as Red List (Low Evidence).
Optic Atrophy v0.56 SLC24A1 Belinda Chong reviewed gene: SLC24A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26822852, 20850105; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.56 AUH Zornitza Stark Marked gene: AUH as ready
Optic Atrophy v0.56 AUH Zornitza Stark Gene: auh has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.56 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, MIM# 250950
Optic Atrophy v0.55 AUH Zornitza Stark Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Optic Atrophy v0.54 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Optic Atrophy v0.54 UBA5 Zornitza Stark Gene: uba5 has been classified as Red List (Low Evidence).
Optic Atrophy v0.54 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Epileptic encephalopathy, early infantile, 44 (MIM#617132)
Optic Atrophy v0.53 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Optic Atrophy v0.52 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.51 UBA5 Zornitza Stark Classified gene: UBA5 as Red List (low evidence)
Optic Atrophy v0.51 UBA5 Zornitza Stark Gene: uba5 has been classified as Red List (Low Evidence).
Optic Atrophy v0.50 NBAS Zornitza Stark Marked gene: NBAS as ready
Optic Atrophy v0.50 NBAS Zornitza Stark Added comment: Comment when marking as ready: Also note individuals in DECIPHER with eye phenotypes and bi-allelic variants but unpublished and also unclear if optic atrophy. Borderline Green/Amber for optic atrophy.
Optic Atrophy v0.50 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Optic Atrophy v0.50 NBAS Zornitza Stark Classified gene: NBAS as Green List (high evidence)
Optic Atrophy v0.50 NBAS Zornitza Stark Gene: nbas has been classified as Green List (High Evidence).
Optic Atrophy v0.49 ATAD3A Zornitza Stark Marked gene: ATAD3A as ready
Optic Atrophy v0.49 ATAD3A Zornitza Stark Added comment: Comment when marking as ready: Optic atrophy reported in individuals with the recurrent de novo missense p.Arg528Trp only at this stage.
Optic Atrophy v0.49 ATAD3A Zornitza Stark Gene: atad3a has been classified as Green List (High Evidence).
Optic Atrophy v0.49 AUH Zornitza Stark Publications for gene: AUH were set to 20855850; 30143805; 31765440; 1594352
Optic Atrophy v0.48 AUH Zornitza Stark Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.47 AUH Zornitza Stark Publications for gene: AUH were set to
Optic Atrophy v0.46 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to 27889060
Optic Atrophy v0.46 AP3B2 Zornitza Stark Marked gene: AP3B2 as ready
Optic Atrophy v0.46 AP3B2 Zornitza Stark Gene: ap3b2 has been classified as Green List (High Evidence).
Optic Atrophy v0.46 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from to Harel-Yoon syndrome, MIM#617183
Optic Atrophy v0.45 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 28652416
Optic Atrophy v0.44 NBAS Elena Savva gene: NBAS was added
gene: NBAS was added to Optic Atrophy. Sources: Expert Review
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NBAS were set to PMID: 20577004; 26286438
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly
Review for gene: NBAS was set to GREEN
Added comment: PMID: 20577004 - Study of 30 Yakut families found ALL had OA, 33/34 patients had the same homozygous missense*, founder very likely

PMID: 26286438 - 1 patient chet for a PTC and missense w/ AO. Second patient (also chet PTC/missense) had NO OA
Sources: Expert Review
Optic Atrophy v0.44 UBA5 Crystle Lee reviewed gene: UBA5: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28965491, PMID: 27545674, PMID: 27545681; Phenotypes: Epileptic encephalopathy, early infantile, 44 (MIM#617132); Mode of inheritance: None
Optic Atrophy v0.44 AP3B2 Zornitza Stark Phenotypes for gene: AP3B2 were changed from to Early-onset epileptic encephalopathy with optic atrophy, MIM#617276
Optic Atrophy v0.43 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to
Optic Atrophy v0.43 AP3B2 Zornitza Stark Publications for gene: AP3B2 were set to
Optic Atrophy v0.42 AP3B2 Zornitza Stark Mode of inheritance for gene: AP3B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.41 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Optic Atrophy v0.40 UCHL1 Zornitza Stark Marked gene: UCHL1 as ready
Optic Atrophy v0.40 UCHL1 Zornitza Stark Gene: uchl1 has been classified as Green List (High Evidence).
Optic Atrophy v0.40 ATAD3A Zornitza Stark Mode of inheritance for gene: ATAD3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.39 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.38 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Optic Atrophy v0.38 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Optic Atrophy v0.38 AUH Zornitza Stark Classified gene: AUH as Amber List (moderate evidence)
Optic Atrophy v0.38 AUH Zornitza Stark Gene: auh has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.37 AUH Zornitza Stark reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.37 UCHL1 Zornitza Stark Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive (MIM#615491)
Optic Atrophy v0.37 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.36 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Optic Atrophy v0.36 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.36 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive
Optic Atrophy v0.35 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Optic Atrophy v0.35 TIMM50 Zornitza Stark Gene: timm50 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.35 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Optic Atrophy v0.34 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.33 UCHL1 Zornitza Stark Publications for gene: UCHL1 were set to
Optic Atrophy v0.32 MECR Zornitza Stark Marked gene: MECR as ready
Optic Atrophy v0.32 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Optic Atrophy v0.32 UCHL1 Zornitza Stark Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.31 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, MIM#617507 to PEHO syndrome-like, MIM#617507
Optic Atrophy v0.30 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Optic Atrophy v0.30 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Optic Atrophy v0.30 CCDC88A Zornitza Stark Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM#617507
Optic Atrophy v0.29 CCDC88A Zornitza Stark Marked gene: CCDC88A as ready
Optic Atrophy v0.29 CCDC88A Zornitza Stark Added comment: Comment when marking as ready: Two families and a mouse model; only one family reported with OA.
Optic Atrophy v0.29 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.29 CCDC88A Zornitza Stark Publications for gene: CCDC88A were set to
Optic Atrophy v0.28 CCDC88A Zornitza Stark Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.27 CCDC88A Zornitza Stark Classified gene: CCDC88A as Amber List (moderate evidence)
Optic Atrophy v0.27 CCDC88A Zornitza Stark Gene: ccdc88a has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.26 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, MIM#604928 to Wolfram syndrome 2, MIM#604928
Optic Atrophy v0.26 MECR Zornitza Stark Phenotypes for gene: MECR were changed from Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Optic Atrophy v0.25 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX (MIM#617698) to 3-methylglutaconic aciduria, type IX (MIM#617698)
Optic Atrophy v0.25 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Optic Atrophy v0.25 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Optic Atrophy v0.25 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX (MIM#617698)
Optic Atrophy v0.24 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Optic Atrophy v0.23 TIMM50 Zornitza Stark Classified gene: TIMM50 as Amber List (moderate evidence)
Optic Atrophy v0.23 TIMM50 Zornitza Stark Gene: timm50 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.22 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB (MIM#616505)
Optic Atrophy v0.22 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
Optic Atrophy v0.22 CISD2 Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928
Optic Atrophy v0.21 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Optic Atrophy v0.20 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.19 CISD2 Zornitza Stark Publications for gene: CISD2 were set to
Optic Atrophy v0.18 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Optic Atrophy v0.18 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.18 CISD2 Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.17 MECR Zornitza Stark Publications for gene: MECR were set to
Optic Atrophy v0.16 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.15 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5, 618226
Optic Atrophy v0.14 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Optic Atrophy v0.13 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.12 NDUFS1 Zornitza Stark Classified gene: NDUFS1 as Amber List (moderate evidence)
Optic Atrophy v0.12 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v0.11 NDUFS1 Elena Savva reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11349233, 24952175, 22200994, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 MECR Elena Savva reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27817865, 31137067; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 CISD2 Elena Savva reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19451219, 25056293, 28335035, 31391115, 25371195; Phenotypes: Wolfram syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 SLC25A46 Crystle Lee reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168012, PMID: 28376086; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM#616505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 TIMM50 Crystle Lee reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27573165, PMID: 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX (MIM#617698); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 CCDC88A Elena Savva reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 26917597, 30392057, 28899015; Phenotypes: ?PEHO syndrome-like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 UCHL1 Crystle Lee reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29735986, PMID: 23359680, PMID: 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive (MIM#615491); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 C12orf65 Elena Savva reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20598281, 23188110, 24198383; Phenotypes: Combined oxidative phosphorylation deficiency 7, Spastic paraplegia 55, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 AUH Elena Savva reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20855850, 30143805, 31765440, 1594352; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 ATAD3A Elena Savva reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27640307, 28652416; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.11 AP3B2 Elena Savva reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.11 SSBP1 Bryony Thompson Classified gene: SSBP1 as Green List (high evidence)
Optic Atrophy v0.11 SSBP1 Bryony Thompson Gene: ssbp1 has been classified as Green List (High Evidence).
Optic Atrophy v0.10 SSBP1 Bryony Thompson gene: SSBP1 was added
gene: SSBP1 was added to Optic Atrophy. Sources: NHS GMS
Mode of inheritance for gene: SSBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SSBP1 were set to 31298765; 31479473; 31550237; 31550240
Phenotypes for gene: SSBP1 were set to Optic atrophy with or without extraocular phenotypes
Review for gene: SSBP1 was set to GREEN
Added comment: At least 9 dominant families/cases and 1 recessive with optic atrophy with/without additional clinical features, including retinal macular dystrophy, sensorineural deafness, mitochondrial myopathy, and kidney failure. Supporting evidence in functional assays and zebrafish model.
Sources: NHS GMS
Optic Atrophy v0.9 MTPAP Zornitza Stark Marked gene: MTPAP as ready
Optic Atrophy v0.9 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Optic Atrophy v0.9 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672
Optic Atrophy v0.8 MTPAP Zornitza Stark Publications for gene: MTPAP were set to
Optic Atrophy v0.7 MTPAP Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.6 MTPAP Zornitza Stark Classified gene: MTPAP as Red List (low evidence)
Optic Atrophy v0.6 MTPAP Zornitza Stark Gene: mtpap has been classified as Red List (Low Evidence).
Optic Atrophy v0.5 MTPAP Natalie Tan reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20970105; Phenotypes: ?Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.5 Zornitza Stark Panel name changed from Optic Atrophy_VCGS to Optic Atrophy
Panel types changed to Victorian Clinical Genetics Services
Optic Atrophy v0.4 UFM1 Zornitza Stark Marked gene: UFM1 as ready
Optic Atrophy v0.4 UFM1 Zornitza Stark Gene: ufm1 has been classified as Green List (High Evidence).
Optic Atrophy v0.4 UFM1 Zornitza Stark Phenotypes for gene: UFM1 were changed from to Leukodystrophy, hypomyelinating, 14, MIM# 617899
Optic Atrophy v0.3 UFM1 Zornitza Stark Publications for gene: UFM1 were set to
Optic Atrophy v0.2 UFM1 Zornitza Stark Mode of inheritance for gene: UFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.1 UFM1 Zornitza Stark reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28931644, 29868776; Phenotypes: Leukodystrophy, hypomyelinating, 14, MIM# 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v0.0 WFS1 Zornitza Stark gene: WFS1 was added
gene: WFS1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WFS1 was set to Unknown
Optic Atrophy v0.0 UFM1 Zornitza Stark gene: UFM1 was added
gene: UFM1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UFM1 was set to Unknown
Optic Atrophy v0.0 UCHL1 Zornitza Stark gene: UCHL1 was added
gene: UCHL1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UCHL1 was set to Unknown
Optic Atrophy v0.0 UBA5 Zornitza Stark gene: UBA5 was added
gene: UBA5 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UBA5 was set to Unknown
Optic Atrophy v0.0 TMEM126A Zornitza Stark gene: TMEM126A was added
gene: TMEM126A was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TMEM126A was set to Unknown
Optic Atrophy v0.0 TIMM8A Zornitza Stark gene: TIMM8A was added
gene: TIMM8A was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM8A was set to Unknown
Optic Atrophy v0.0 TIMM50 Zornitza Stark gene: TIMM50 was added
gene: TIMM50 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TIMM50 was set to Unknown
Optic Atrophy v0.0 TBCD Zornitza Stark gene: TBCD was added
gene: TBCD was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBCD was set to Unknown
Optic Atrophy v0.0 SPG7 Zornitza Stark gene: SPG7 was added
gene: SPG7 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPG7 was set to Unknown
Optic Atrophy v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A46 was set to Unknown
Optic Atrophy v0.0 SLC24A1 Zornitza Stark gene: SLC24A1 was added
gene: SLC24A1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC24A1 was set to Unknown
Optic Atrophy v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLG was set to Unknown
Optic Atrophy v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLAA was set to Unknown
Optic Atrophy v0.0 PBX1 Zornitza Stark gene: PBX1 was added
gene: PBX1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PBX1 was set to Unknown
Optic Atrophy v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPA3 was set to Unknown
Optic Atrophy v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: OPA1 was set to Unknown
Optic Atrophy v0.0 NR2F1 Zornitza Stark gene: NR2F1 was added
gene: NR2F1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR2F1 was set to Unknown
Optic Atrophy v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NDUFS1 was set to Unknown
Optic Atrophy v0.0 MTPAP Zornitza Stark gene: MTPAP was added
gene: MTPAP was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MTPAP was set to Unknown
Optic Atrophy v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MFN2 was set to Unknown
Optic Atrophy v0.0 MECR Zornitza Stark gene: MECR was added
gene: MECR was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MECR was set to Unknown
Optic Atrophy v0.0 FDXR Zornitza Stark gene: FDXR was added
gene: FDXR was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FDXR was set to Unknown
Optic Atrophy v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CISD2 was set to Unknown
Optic Atrophy v0.0 CCDC88A Zornitza Stark gene: CCDC88A was added
gene: CCDC88A was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CCDC88A was set to Unknown
Optic Atrophy v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: C12orf65 was set to Unknown
Optic Atrophy v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AUH was set to Unknown
Optic Atrophy v0.0 ATAD3A Zornitza Stark gene: ATAD3A was added
gene: ATAD3A was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ATAD3A was set to Unknown
Optic Atrophy v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AP3B2 was set to Unknown
Optic Atrophy v0.0 AFG3L2 Zornitza Stark gene: AFG3L2 was added
gene: AFG3L2 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AFG3L2 was set to Unknown
Optic Atrophy v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACO2 was set to Unknown
Optic Atrophy v0.0 Zornitza Stark Added panel Optic Atrophy_VCGS