Left Ventricular Noncompaction Cardiomyopathy

Gene: PRDM16

Red List (low evidence)

PRDM16 (PR/SET domain 16)
EnsemblGeneIds (GRCh38): ENSG00000142611
EnsemblGeneIds (GRCh37): ENSG00000142611
OMIM: 605557, Gene2Phenotype
PRDM16 is in 3 panels

1 review

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

1p36 deletion syndrome patients have increased risk of LVNC. However, CNVs in this gene are frequent on Database of Genomic Variants, and no segregation data has yet been described.
Created: 6 Jan 2016, 5:12 p.m.

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Left ventricular noncompaction 8
OMIM
605557
Clinvar variants
Variants in PRDM16
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PRDM16 was added to Left ventricular non-compaction cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen