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Cardiomyopathies - including childhood onset

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

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Sources: Literature
Created: 4 May 2021, 12:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy, MONDO:0005021 Edit

Publications

Details

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

History Filter Activity

4 May 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).

4 May 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 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