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Mendeliome

Gene: NAA15

Green List (high evidence)

NAA15 (N(alpha)-acetyltransferase 15, NatA auxiliary subunit)
EnsemblGeneIds (GRCh38): ENSG00000164134
EnsemblGeneIds (GRCh37): ENSG00000164134
OMIM: 608000, Gene2Phenotype
NAA15 is in 9 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Monoallelic variants associated with syndromic ID. At least 47 individuals from 42 unrelated families in the published literature. Phenotypic features reported include:

- ID (all)
- Mild dysmorphic features (20/30)
- ASD/ADHD/behavioural issues (30/33)
- Skeletal and connective tissue anomalies (10/22)
- Congenital heart defects (4/19)
- Hypertrophic cardiomyopathy (paediatric onset) - 2 unrelated individuals (PMID: 33103328)

In addition:

PMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants.
Created: 7 Mar 2022, 10:04 p.m. | Last Modified: 7 Mar 2022, 10:04 p.m.
Panel Version: 0.11189

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787
OMIM
608000
Clinvar variants
Variants in NAA15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naa15 has been classified as Green List (High Evidence).

9 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAA15 were changed from to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787

9 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAA15 were set to

9 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAA15 was added gene: NAA15 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NAA15 was set to Unknown