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Intellectual disability syndromic and non-syndromic

Gene: NAA10

Green List (high evidence)

NAA10 (N(alpha)-acetyltransferase 10, NatA catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000102030
EnsemblGeneIds (GRCh37): ENSG00000102030
OMIM: 300013, Gene2Phenotype
NAA10 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Both conditions are associated with ID.
Created: 11 Jan 2022, 6:57 a.m. | Last Modified: 11 Jan 2022, 6:57 a.m.
Panel Version: 0.4423

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

Phenotypes
Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:34075687 (Review paper on this gene)

non-lethal syndromic ID has been reported in 10 males and (mostly de novo) in 37 females

unlike syndromic microopththamia where the variants are in the UTR, variants causing syndromic ID are missense located along the protein and 1 truncating
Created: 7 Jan 2022, 3:52 a.m. | Last Modified: 7 Jan 2022, 3:52 a.m.
Panel Version: 0.4418

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
syndromic intellectual disability MONDO:0000508

Publications

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Microphthalmia, syndromic 1, MIM# 309800
  • Ogden syndrome MIM#300855
Tags
5'UTR
OMIM
300013
Clinvar variants
Variants in NAA10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: NAA10.

11 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAA10 were changed from to Microphthalmia, syndromic 1, MIM# 309800; Ogden syndrome MIM#300855

11 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NAA10 were set to

11 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

7 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: naa10 has been classified as Green List (High Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAA10 was added gene: NAA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAA10 was set to Unknown