Optic Atrophy
Gene: C19orf12EnsemblGeneIds (GRCh38): ENSG00000131943
EnsemblGeneIds (GRCh37): ENSG00000131943
OMIM: 614297, Gene2Phenotype
C19orf12 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.Created: 15 Apr 2020, 11:10 p.m. | Last Modified: 15 Apr 2020, 11:10 p.m.
Panel Version: 0.68
Elena Savva (Victorian Clinical Genetics Services)
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 ReviewCreated: 15 Apr 2020, 1:40 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Spastic paraplegia 43, autosomal recessive 61504; Neurodegeneration with brain iron accumulation 4 614298
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- ?Spastic paraplegia 43, autosomal recessive 61504
- Neurodegeneration with brain iron accumulation 4 614298
- OMIM
- 614297
- Clinvar variants
- Variants in C19orf12
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Neurodegeneration with brain iron accumulation
- Prepair 1000+
- Hereditary Neuropathy - complex
- Dystonia - complex
- Optic Atrophy
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: c19orf12 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)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