Dilated cardiomyopathy - adult and teen

Gene: NRAP

Amber List (moderate evidence)

NRAP (nebulin related anchoring protein)
EnsemblGeneIds (GRCh38): ENSG00000197893
EnsemblGeneIds (GRCh37): ENSG00000197893
OMIM: 602873, Gene2Phenotype
NRAP is in 2 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
Created: 25 Feb 2021, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy, MONDO:0005021

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy, MONDO:0005021
Tags
Q2_21_rating gene-checked
OMIM
602873
Clinvar variants
Variants in NRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 May 2022, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: NRAP.

20 Apr 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: NRAP were set to 30384889; 33534821; 28611399; https://doi.org/10.1101/2020.10.12.20211474

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: nrap has been classified as Amber List (Moderate Evidence).

25 Feb 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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