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Inborn errors of metabolism

Gene: DNAJC12

Green List (high evidence)

DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12)
EnsemblGeneIds (GRCh38): ENSG00000108176
EnsemblGeneIds (GRCh37): ENSG00000108176
OMIM: 606060, Gene2Phenotype
DNAJC12 is in 9 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green based on PMID:28132689, which identify 3 variants in 4 unrelated families, and a metabolic phenotype.
Created: 15 May 2017, 7:36 a.m.
In 6 patients from 4 unrelated consanguineous families with mild non-BH4-deficiency hyperphenylalaninemia (MIM:617384), Anikster et al. (2017, PMID:28132689) identified 3 different homozygous loss-of-function mutations in the DNAJC12 gene. The study also demonstrated reduced DNAJC12 expression in fibroblasts in the individuals with null mutations.
Created: 15 May 2017, 7:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384

Publications

Details

History Filter Activity

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, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: DNAJC12 was added gene: DNAJC12 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC12 were set to 28132689 Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384