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Inborn errors of metabolism

Gene: DNAJC5

Green List (high evidence)

DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5)
EnsemblGeneIds (GRCh38): ENSG00000101152
EnsemblGeneIds (GRCh37): ENSG00000101152
OMIM: 611203, Gene2Phenotype
DNAJC5 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 2 variants reported in at least 5 unrelated cases. Functional evidence also available
Created: 19 Jan 2017, 2:28 p.m.

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DNAJC5. Source London North GLH was added to DNAJC5.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DNAJC5 was added gene: DNAJC5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNAJC5 were set to 27604308; 21820099