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  3. NAA15
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Cardiomyopathy_Paediatric

Gene: NAA15

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 1 Feb 2021, 7:55 a.m.
Last Modified: 1 Feb 2021, 7:55 a.m.
Panel version: 0.44

Tiong Tan (Victorian Clinical Genetics Services)

Red List (low evidence)

Two unrelated individuals with HCM and NAA15-related neurodevelopmental syndrome
Created: 1 Feb 2021, 4:45 a.m. | Last Modified: 1 Feb 2021, 4:45 a.m.
Panel Version: 0.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ID, cardiac

Publications

Created: 1 Feb 2021, 4:45 a.m.
Last Modified: 1 Feb 2021, 4:45 a.m.
Panel version: 0.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mental retardation, autosomal dominant 50, MIM# 617787
  • cardiomyopathy
OMIM
608000
Clinvar variants
Variants in NAA15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: naa15 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAA15 were changed from Intellectual disability; cardiomyopathy to Mental retardation, autosomal dominant 50, MIM# 617787; cardiomyopathy

1 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAA15 were changed from to Intellectual disability; cardiomyopathy

1 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAA15 were set to

1 Feb 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Jul 2020, Gel status: 2

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 Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown