Paediatric or syndromic cardiomyopathy
Gene: NAA15
Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated c cases reported with paediatric hypertrophic cardiomyopathy.
PMID:33103328 reported two unrelated individuals with paediatric hypertrophic cardiomyopathy and they were identified with de novo variants in NAA15 gene (patient 1: c.1009_1012delGAAA/ p.Glu337fs, patient 2: c.79A>G/ p.Arg27Gly). These patients presented with cardiomyopathy at 2 months and 6 years of age respectively.
Although none of the patients reported with hypertrophic cardiomyopathy in PMID:29656860, 4 of 19 patients were reported with congenital cardiac defects.
Although this gene has not yet been associated with cardiac abnormalities in OMIM, this gene has been associated with "Congenital heart disease and neurodevelopmental disorder" in the DD panel of Gene2Phenotype database (with 'strong' rating).Created: 31 Jul 2023, 9:40 a.m. | Last Modified: 31 Jul 2023, 9:41 a.m.
Panel Version: 3.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hypertrophic cardiomyopathy, MONDO:0005045
Publications
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Publications for gene: NAA15 were set to
Phenotypes for gene: NAA15 were changed from to hypertrophic cardiomyopathy, MONDO:0005045
Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
gene: NAA15 was added gene: NAA15 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NAA15 was set to