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| Dilated Cardiomyopathy v1.14 | PRDM16 | Zornitza Stark Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.13 | PRDM16 | Zornitza Stark Classified gene: PRDM16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.13 | PRDM16 | Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.12 | PRDM16 | Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.59 | PRDM16 | Zornitza Stark Tag SV/CNV tag was added to gene: PRDM16. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.59 | PRDM16 | Zornitza Stark Marked gene: PRDM16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.59 | PRDM16 | Zornitza Stark Added comment: Comment when marking as ready: Associated with LVNC phenotype, included here due to phenotypic overlap with DCM though the evidence for association with DCM is limited. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.59 | PRDM16 | Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.59 | PRDM16 | Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.59 | PRDM16 | Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.55 | PRDM16 |
Naomi Baker gene: PRDM16 was added gene: PRDM16 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688. 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 AMBER Added comment: Arndt et al., 2013 (PMID:23768516) identified a minimal deletion region of PRDM16 in 1p36del syndrome. Resequencing a cohort of 75 LVNC patients identified three SNV mutations (one truncation, one frameshift, one missense) and sequencing a series of cardiac biopsies from 131 individuals with DCM identified 5 individuals with 4 previously unreported nonsynonomous variants. This publication was refuted by Leeuw & Houge 2014 (PMID: 24387995). Deplancq et al., 2020 (PMID: 31965688) describes the first fetal case of left ventricular nonâcompaction (LVNC) with a heterozygous de novo nonsense variant. Sources: Literature |
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