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Optic neuropathy

Gene: DNAJC30

Green List (high evidence)
DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)
EnsemblGeneIds (GRCh38): ENSG00000176410
EnsemblGeneIds (GRCh37): ENSG00000176410
DNAJC30 is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

PMID:38107630 - case report of 3 individuals of Eastern European decent (2 Polish, 1 Hungarian) presenting with bilateral painless visual loss typical of arLHON, one also exhibited motor symptoms (gait ataxia and proximal muscle weakness characteristic of Leigh syndrome). All three patients were found to carry the homozygous c.152A>G (p.Tyr51Cys) mutation in DNAJC30. This study provides further evidence for a founder effect associated with this variant.
Created: 17 Nov 2024, 9:51 p.m. | Last Modified: 17 Nov 2024, 9:51 p.m.
Panel Version: 4.38

Publications

Created: 17 Nov 2024, 9:51 p.m.
Last Modified: 17 Nov 2024, 9:51 p.m.
Panel version: 4.38

Sarah Leigh (Genomics England Curator)

The gene-checked tag has been removed, as this gene is now associated with Leber-like hereditary optic neuropathy, autosomal recessive 1, (OMIM:619382).
Created: 20 Feb 2024, 5:55 p.m. | Last Modified: 20 Feb 2024, 5:55 p.m.
Panel Version: 4.21
Created: 20 Feb 2024, 5:55 p.m.
Last Modified: 20 Feb 2024, 5:55 p.m.
Panel version: 4.21

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7
Created: 30 Jan 2023, 1:02 p.m.
Last Modified: 30 Jan 2023, 1:02 p.m.
Panel version: 3.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Leber-like hereditary optic neuropathy, autosomal recessive 1, MONDO:0958183
  • Leber-like hereditary optic neuropathy, autosomal recessive 1, OMIM:619382
Tags
gene-checked
Clinvar variants
Variants in DNAJC30
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2024, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: DNAJC30.

29 Feb 2024, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag gene-checked was removed from gene: DNAJC30.

20 Feb 2024, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy, MONDO:0010788 to Leber-like hereditary optic neuropathy, autosomal recessive 1, MONDO:0958183; Leber-like hereditary optic neuropathy, autosomal recessive 1, OMIM:619382

20 Feb 2024, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNAJC30 were set to 33465056; 35091433

8 Feb 2023, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DNAJC30 were changed from to Leber hereditary optic neuropathy, MONDO:0010788

8 Feb 2023, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: DNAJC30 were set to

8 Feb 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: DNAJC30.

30 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DNAJC30 was added gene: DNAJC30 was added to Optic neuropathy. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal