Familial diabetes
Gene: DNAJC3
DNAJC3 (DnaJ heat shock protein family (Hsp40) member C3)
EnsemblGeneIds (GRCh38): ENSG00000102580
EnsemblGeneIds (GRCh37): ENSG00000102580
OMIM: 601184, Gene2Phenotype
DNAJC3 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000102580
EnsemblGeneIds (GRCh37): ENSG00000102580
OMIM: 601184, Gene2Phenotype
DNAJC3 is in 7 panels
1 review
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).Created: 28 Jan 2019, 9:39 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: DCAJC3; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration.Created: 11 Jan 2019, 10:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review Green
- NHS GMS
- Phenotypes
-
- ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
- OMIM
- 601184
- Clinvar variants
- Variants in DNAJC3
- Penetrance
- None
- Panels with this gene
History Filter Activity
1 Mar 2019, Gel status: 4
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DNAJC3 were changed from to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
1 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: DNAJC3 was added gene: DNAJC3 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal