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  2. Cardiomyopathy_Paediatric
  3. NRAP
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Cardiomyopathy_Paediatric

Gene: NRAP

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Created: 20 Mar 2021, 2:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy

Publications

Created: 20 Mar 2021, 2:24 a.m.

Panel version: 0.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dilated cardiomyopathy
OMIM
602873
Clinvar variants
Variants in NRAP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nrap has been classified as Green List (High Evidence).

20 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nrap has been classified as Green List (High Evidence).

20 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NRAP was added gene: NRAP was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709 Phenotypes for gene: NRAP were set to Dilated cardiomyopathy Review for gene: NRAP was set to GREEN