Cardiomyopathy_Paediatric
Gene: PRDM16EnsemblGeneIds (GRCh38): ENSG00000142611
EnsemblGeneIds (GRCh37): ENSG00000142611
OMIM: 605557, Gene2Phenotype
PRDM16 is in 6 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Paediatric onset reported.
Sources: Expert ReviewCreated: 4 Aug 2023, 1:17 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Cardiomyopathy, dilated, 1LL MIM#615373
- Left ventricular noncompaction 8 MIM#615373
- OMIM
- 605557
- Clinvar variants
- Variants in PRDM16
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prdm16 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: prdm16 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PRDM16 was added gene: PRDM16 was added to Cardiomyopathy_Paediatric. Sources: Expert Review Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM16 were set to 29367541; 29447731; 30847666; 33082984; 32183154; 33500567; 34540771; 34350506; 34935411 Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373 Review for gene: PRDM16 was set to GREEN