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Leber hereditary optic neuropathy

Gene: DNAJC30

Amber List (moderate evidence)

DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30)
EnsemblGeneIds (GRCh38): ENSG00000176410
EnsemblGeneIds (GRCh37): ENSG00000176410
DNAJC30 is in 1 panel

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Amber. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Created: 18 Mar 2021, 4:43 p.m. | Last Modified: 18 Mar 2021, 4:43 p.m.
Panel Version: 1.8

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
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
Created: 12 Feb 2021, 4:31 a.m. | Last Modified: 12 Feb 2021, 4:31 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber Hereditary Optic Neuropathy

Publications

Neringa Jurkute (MD)

Green List (high evidence)

Following to ESHG 2020 conference presentation, same study group published their findings in JCI journal. They identified additional families with affected individuals presenting as LHON-like phenotype. In total 33 affected individuals reported, with 29 harboured p.Tyr51Cys homozygous variant; remaining 4 patients, harboured p.Pro78Ser, p.Leu101Gln homozygous variants.
Study group showed Complex I deficiency in skeletal muscle biopsy studies; they performed functional assays to prove DNAJC30 pathogenicity.

Source: Publication (PMID: 33465056)
Created: 4 Feb 2021, 10:20 a.m. | Last Modified: 4 Feb 2021, 10:20 a.m.
Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LHON-like

Publications

Mode of pathogenicity
Other

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

ESHG 2020 conference presentation - C25.5 - Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy - Sarah Stenton et al. Report 29 families with individuals with biallelic variants in DNAJC30 and a Leber's hereditary optic neuropathy. 27 of the families have the same p.Tyr51Cys variant and come from Eastern Europe. Analysis suggests a founder mutation from 85 generations agao. 2 other variants found in other families p.Pro78Ser and p.Leu101Gln. Pentrance is not complete.
No publication relating to this work is found in PubMed at this time.
Sources: Literature
Created: 21 Jun 2020, 5:52 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leber hereditary optic neuropathy

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Leber hereditary optic neuropathy, MONDO:0010788
  • LHON-like
Tags
Q2_21_rating Q2_21_NHS_review
Clinvar variants
Variants in DNAJC30
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

18 Mar 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dnajc30 has been classified as Amber List (Moderate Evidence).

18 Mar 2021, Gel status: 1

Removed Tag, Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist was removed from gene: DNAJC30. Tag Q2_21_rating tag was added to gene: DNAJC30. Tag Q2_21_NHS_review tag was added to gene: DNAJC30.

27 Jan 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DNAJC30 were changed from Leber hereditary optic neuropathy to Leber hereditary optic neuropathy; LHON-like

27 Jan 2021, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DNAJC30 were set to

21 Jun 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: DNAJC30 was added gene: DNAJC30 was added to Leber hereditary optic neuropathy. Sources: Literature watchlist tags were added to gene: DNAJC30. Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC30 were set to Leber hereditary optic neuropathy Review for gene: DNAJC30 was set to RED