Cardiomyopathies - including childhood onsetGene: NRAP
This gene is Green on the Dilated cardiomyopathy - adult and teen (Version 1.22) with the following reviews:
"This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There are >3 unrelated cases of patients with variants in this gene and having DCM. https://doi.org/10.1101/2020.10.12.20211474 also describes a CRISPR knockout zebrafish which had a cardiac phenotype. Therefore, there is enough evidence to support a gene-disease association and this gene is recommended to be promoted Green at the next panel review. Sources: Literature
Ivone Leong (Genomics England Curator), 25 Feb 2021"
"Twenty unrelated families reported with childhood onset DCM. May be more appropriate for the paediatric cardiomyopathy panel."
As affected individuals have childhood onset DCM it was deemed appropriate to add this gene to this panel as well.
Created: 4 May 2021, 12:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Dilated cardiomyopathy, MONDO:0005021 Edit
Gene: nrap has been classified as Amber List (Moderate Evidence).
gene: NRAP was added gene: NRAP was added to Cardiomyopathies - including childhood onset. Sources: Literature Q2_21_rating tags were added to gene: NRAP. Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474; 32870709 Phenotypes for gene: NRAP were set to Dilated cardiomyopathy, MONDO:0005021 Edit Review for gene: NRAP was set to GREEN