Optic Atrophy
Gene: PTCD3EnsemblGeneIds (GRCh38): ENSG00000132300
EnsemblGeneIds (GRCh37): ENSG00000132300
OMIM: 614918, Gene2Phenotype
PTCD3 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Four families reported plus functional data. Optic atrophy is a feature.
Sources: Expert listCreated: 2 Sep 2023, 2:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency-51, MIM#619057; Intellectual disability; optic atrophy; Leigh-like syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Combined oxidative phosphorylation deficiency-51, MIM#619057
- Intellectual disability
- optic atrophy
- Leigh-like syndrome
- OMIM
- 614918
- Clinvar variants
- Variants in PTCD3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptcd3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptcd3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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