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Fetal anomalies

Gene: DNAJC19

Amber List (moderate evidence)
DNAJC19 (DnaJ heat shock protein family (Hsp40) member C19)
EnsemblGeneIds (GRCh38): ENSG00000205981
EnsemblGeneIds (GRCh37): ENSG00000205981
OMIM: 608977, Gene2Phenotype
DNAJC19 is in 15 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

I don't know

Green in lots of panels including severe paediatric, cardiomyopathy, ID, IEM. Causes early onset dilated cardiomyopathy with conduction defects. PMID:16055927 - 18 patients - Prenatal or postnatal growth failure, or both, was universally seen; onset of the DCM was always before the age of three years. No prenatal ascertainment - suspect not for inclusion unless the cardiomyopathy likely to be present prenatally or early enough IUGR. Amber await clear report of fetal presentation.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type V, OMIM:610198

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable.
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

History Filter Activity

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V 610198 to 3-methylglutaconic aciduria, type V, OMIM:610198

30 Aug 2024, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DNAJC19 were set to

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DNAJC19 was added gene: DNAJC19 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198