Dilated and arrhythmogenic cardiomyopathy
Gene: NRAP
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber.Created: 30 Jan 2023, 2:04 p.m. | Last Modified: 30 Jan 2023, 2:04 p.m.
Panel Version: 2.4
Twenty unrelated families reported with childhood onset DCM.
May be more appropriate for the paediatric cardiomyopathy panel.Created: 15 Apr 2021, 11:13 a.m. | Last Modified: 15 Apr 2021, 11:13 a.m.
Panel Version: 1.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy
Publications
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: LiteratureCreated: 25 Feb 2021, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dilated cardiomyopathy, MONDO:0005021
Publications
Tag Q2_21_rating was removed from gene: NRAP.
Tag gene-checked tag was added to gene: NRAP.
Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474
Gene: nrap has been classified as Amber List (Moderate Evidence).
gene: NRAP was added gene: NRAP was added to Dilated cardiomyopathy - adult and teen. 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 Phenotypes for gene: NRAP were set to Dilated cardiomyopathy, MONDO:0005021 Review for gene: NRAP was set to GREEN