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Intellectual disability

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 6 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Reported in thirteen unrelated patients, meets criteria
Created: 19 Jun 2018, 3:26 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Changed Amber to Green from external review comment and further publications to support gene-disease association
Created: 30 Jul 2018, 8:36 a.m.
From external clinical review this gene can be made green due to new publication PMID: 28191889
Created: 30 Jul 2018, 8:35 a.m.
Comment on mode of inheritance: changed MOI from external clinical review and publications
Created: 30 Jul 2018, 8:35 a.m.
To be reviewed
Created: 20 Apr 2018, 9:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Mental retardation, autosomal dominant 50 617787; Intellectual disability

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Literature
Phenotypes
  • Mental retardation, autosomal dominant 50, 617787
  • Intellectual disability
OMIM
608000
Clinvar variants
Variants in NAA15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to NAA15.

30 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

30 Jul 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

23 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAA15 were set to Mental retardation, autosomal dominant 50, 617787; Intellectual disability

23 Apr 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NAA15 were set to Mental retardation, autosomal dominant 50, 617787; Intellectual disability

20 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NAA15 was added to Intellectual disability panel. Sources: Literature

20 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

NAA15 was created by Louise Daugherty