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Undiagnosed metabolic disorders

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 8 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

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
OMIM
606060
Clinvar variants
Variants in DNAJC12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 May 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

15 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DNAJC12 was created by rfoulger

15 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

DNAJC12 was added to Undiagnosed metabolic disorderspanel. Sources: Other