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Intellectual disability

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_2_4_2017 . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 5:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green based on sufficient ID cases reported in PMID:28132689 plus agreement from Arianna Tucci.
Created: 12 Jun 2017, 12:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, mild, non-BH4-deficient, 617384; Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Publications

Details

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

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to DNAJC12.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Jun 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

Added New Source

Rebecca Foulger (Genomics England curator)

DNAJC12 was added to Intellectual disabilitypanel. Sources: Other

15 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

DNAJC12 was created by rfoulger