Neurotransmitter 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 10 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.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DNAJC12 were set to 28132689

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for DNAJC12 were set to 28132689

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

DNAJC12 was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

DNAJC12 was added to Neurotransmitter disorderspanel. Sources: Literature