Paediatric or syndromic cardiomyopathy
Gene: NAA10

NAA10 (N(alpha)-acetyltransferase 10, NatA catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000102030
EnsemblGeneIds (GRCh37): ENSG00000102030
OMIM: 300013, Gene2Phenotype
NAA10 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: There are two unrelated cases with paediatric-onset hypertrophic cardiomyopathy. Hence, this gene should be rated amber.
Created: 31 Jul 2023, 10:04 a.m. | Last Modified: 31 Jul 2023, 10:04 a.m.

Panel Version: 3.20

PMID:29748569 reported the identification of previously undescribed NAA10 variant (c.215T>C; p.Ile72Thr) in three boys from two unrelated families with a milder phenotypic spectrum in comparison to most of the previously described patients with NAA10 variants. These boys had developmental delay, intellectual disability, and hypertrophic cardiomyopathy.

This gene has been associated with Ogden syndrome in both OMIM ands Gene2Phenotype and the OMIM record includes hypertrophic cardiomyopathy and other cardiac abnormalities as clinical manifestations of this disorder.
Sources: Literature
Created: 31 Jul 2023, 10:04 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Ogden syndrome, OMIM:300855

Publications

29748569

Created: 31 Jul 2023, 10:04 a.m.

Panel version: 3.19

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Amber
Literature

Phenotypes

Ogden syndrome, OMIM:300855

OMIM

300013

Clinvar variants

Variants in NAA10

Penetrance

None

Publications

29748569

Panels with this gene

History Filter Activity

31 Jul 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: naa10 has been classified as Amber List (Moderate Evidence).

31 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NAA10 was added gene: NAA10 was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NAA10 were set to 29748569 Phenotypes for gene: NAA10 were set to Ogden syndrome, OMIM:300855 Review for gene: NAA10 was set to AMBER

Paediatric or syndromic cardiomyopathy Gene: NAA10