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Cardiomyopathies - including childhood onset

Gene: DTNA

Red List (low evidence)

DTNA (dystrobrevin alpha)
EnsemblGeneIds (GRCh38): ENSG00000134769
EnsemblGeneIds (GRCh37): ENSG00000134769
OMIM: 601239, Gene2Phenotype
DTNA is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Red List (low evidence)

Left ventricular noncompaction 1, with or without congenital heart defects OMIM#604169
Created: 25 Mar 2019, 4:30 p.m.
HGMD: only 2 DM variants associated with LVNC and CHD and the other Menieres disease. Ichida F et al (2001). Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263. and Tsujii (2018) Pediatr Int 60, 385 - triple mutation in Barth syndrome.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Red
Phenotypes
  • Left ventricular noncompaction 1, with or without congenital heart defects,
OMIM
601239
Clinvar variants
Variants in DTNA
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to DTNA.

4 Sep 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: DTNA was added gene: DTNA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,London South GLH,South West GLH Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1, with or without congenital heart defects,