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Optic Atrophy

Gene: DNAJC30

Green List (high evidence)
DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)
EnsemblGeneIds (GRCh38): ENSG00000176410
EnsemblGeneIds (GRCh37): ENSG00000176410
DNAJC30 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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
Created: 2 Feb 2021, 8:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber Hereditary Optic Neuropathy, MIM#619382

Publications

Created: 2 Feb 2021, 8:52 p.m.

Panel version: 0.132

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leber Hereditary Optic Neuropathy, MIM#619382
Clinvar variants
Variants in DNAJC30
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2021, Gel status: 3

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

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajc30 has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnajc30 has been classified as Green List (High Evidence).

2 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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