Neurotransmitter disorders
Gene: DNAJC12

DNAJC12 (DnaJ heat shock protein family (Hsp40) member C12)
EnsemblGeneIds (GRCh38): ENSG00000108176
EnsemblGeneIds (GRCh37): ENSG00000108176
OMIM: 606060, Gene2Phenotype
DNAJC12 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 9:52 a.m.

Comment on publications: In 6 patients from 4 unrelated consanguineous families with mild non-BH4-deficiency hyperphenylalaninemia (HPANBH4; 617384), Anikster et al. (2017) PMID: 28132689 identified 3 different homozygous loss-of-function mutations in the DNAJC12 gene
Created: 25 May 2017, 9:52 a.m.

added treatable-tag: Clinical Genomic Database Comments (NIH/NHGRI): The condition can involve variable neurocognitive dysfunction, and individuals have been reported as benefiting from neurotrnsmitter precursors, especially if initiated in infancy
Created: 25 May 2017, 9:49 a.m.

Comment on phenotypes: Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Created: 25 May 2017, 9:46 a.m.

Created: 25 May 2017, 9:49 a.m.

Panel version: 0.31

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 1 Mar 2017, 1:29 p.m.

Panel version: 0.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Hyperphenylalaninemia, mild, non-BH4-deficient, 617384

Tags

treatable

OMIM

606060

Clinvar variants

Variants in DNAJC12

Penetrance

Complete

Publications

28132689

Panels with this gene