Mitochondrial disease
Gene: DNAJC30EnsemblGeneIds (GRCh38): ENSG00000176410
EnsemblGeneIds (GRCh37): ENSG00000176410
DNAJC30 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber Hereditary Optic Neuropathy, MIM#619382
John Christodoulou (Murdoch Children's Research Institute)
33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases0.
All three variants not seen in gnomAD.
Interestingly - 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.
Good functional evidence also provided
This is the first nuclear encoded phenocopy of mtLHON.
Sources: LiteratureCreated: 2 Feb 2021, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leber Hereditary Optic Neuropathy
Publications
- PMID: 33465056
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leber Hereditary Optic Neuropathy, MIM#619382
- Clinvar variants
- Variants in DNAJC30
- Penetrance
- Incomplete
- Publications
-
- PMID: 33465056
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnajc30 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dnajc30 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Christodoulou (Murdoch Children's Research Institute)gene: DNAJC30 was added gene: DNAJC30 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC30 were set to PMID: 33465056 Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy Penetrance for gene: DNAJC30 were set to Incomplete Review for gene: DNAJC30 was set to GREEN