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Paediatric or syndromic cardiomyopathy v7.93 NAA15 Matthew Edwards reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram changed review comment from: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous frameshift variant in NAA15 gene (c.174_177del/ p.Arg313Pro & c.1232C>T/ p.Cys58TrpfsTer15). Only the patient genome was sequenced.; to: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous frameshift variant in NAA15 gene (c.174_177del/ p.Cys58TrpfsTer15). Only the patient genome was sequenced.
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram Classified gene: NAA15 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram Added comment: Comment on list classification: The majority of the cases reported with heterozygous NAA15 variants do not present with cardiomyopathy, while a significant proportion of cases had congenital cardiac defects.

There were >50 cases reported in total. However, only three unrelated cases were reported with cardiomyopathy (two frameshift variants and one missense variant), of which one of the cases were from the UK 100,000 genomes project cohort.

Hence, this gene should remain as amber. The 'watchlist' tag has been added to review new evidence in the future.
Paediatric or syndromic cardiomyopathy v7.43 NAA15 Achchuthan Shanmugasundram Gene: naa15 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v7.42 NAA15 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 29 August 2025.
Paediatric or syndromic cardiomyopathy v7.42 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from hypertrophic cardiomyopathy, MONDO:0005045 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787; hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v7.41 NAA15 Achchuthan Shanmugasundram Publications for gene: NAA15 were set to 33103328
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram Tag watchlist tag was added to gene: NAA15.
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram edited their review of gene: NAA15: Added comment: PMID:39472908 (2024) reported paediatric and adult probands with diverse cardiomyopathies from the UK 100,000 genomes project cohort, of which one patient with hypertrophic cardiomyopathy was identified with heterozygous frameshift variant in NAA15 gene (c.174_177del/ p.Arg313Pro & c.1232C>T/ p.Cys58TrpfsTer15). Only the patient genome was sequenced.; Changed publications to: 33103328, 39472908
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram changed review comment from: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated 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).; to: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated 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 were 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).
Paediatric or syndromic cardiomyopathy v7.40 NAA15 Achchuthan Shanmugasundram changed review comment from: 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).; to: Comment on gene rating: The rating of this gene should remain amber in this panel, as there are only two unrelated 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).
Paediatric or syndromic cardiomyopathy v3.18 NAA15 Achchuthan Shanmugasundram Publications for gene: NAA15 were set to
Paediatric or syndromic cardiomyopathy v3.17 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from to hypertrophic cardiomyopathy, MONDO:0005045
Paediatric or syndromic cardiomyopathy v3.16 NAA15 Achchuthan Shanmugasundram Mode of inheritance for gene: NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v3.15 NAA15 Achchuthan Shanmugasundram changed review comment from: 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).; to: 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).
Paediatric or syndromic cardiomyopathy v3.15 NAA15 Achchuthan Shanmugasundram reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: None; Publications: 33103328; Phenotypes: hypertrophic cardiomyopathy, MONDO:0005045; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v0.51 NAA15 Ivone Leong Mode of inheritance for gene: NAA15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v0.16 NAA15 Ivone Leong reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 NAA15 Ivone Leong 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