Neurotransmitter disorders
Gene: DNAJC12Comment on list classification: Changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 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 geneCreated: 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 infancyCreated: 25 May 2017, 9:49 a.m.
Comment on phenotypes: Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityCreated: 25 May 2017, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for DNAJC12 were set to 28132689
Publications for DNAJC12 were set to 28132689
Phenotypes for DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
Phenotypes for DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384
DNAJC12 was created by Manju
DNAJC12 was added to Neurotransmitter disorderspanel. Sources: Literature