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Fetal anomalies

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

For Ogden association, PMID 34075687:
lethal X-linked. 9 males from 3 families with recurrent Ser37Pro
All presenting the distinctive and recognizable phenotype, which includes mostly postnatal growth retardation, global severe developmental delay, characteristic craniofacial features, and structural cardiac anomalies and/or arrhythmias

For non-lethal syndromic ID:
reported in 10 males and (mostly de novo) in 37 females
variants causing this are missense located along the protein and 1 truncating
Created: 11 Jan 2022, 7:02 a.m. | Last Modified: 11 Jan 2022, 7:02 a.m.
Panel Version: 0.1938
Syndromic microphthalmia-1 (MCOPS1) is an X-linked disorder characterised by unilateral or bilateral microphthalmia or anophthalmia. The most common extraocular features are impaired intellectual development, large and dysplastic ears with skin tags, high-arched or cleft palate, dental anomalies, urogenital anomalies, and skeletal manifestations including lordosis or scoliosis, clinodactyly, syndactyly, brachydactyly, and abnormal thumbs. There is considerable variation in severity among reported families.

Note 5'UTR variants reported.
Created: 28 Dec 2020, 9:37 p.m. | Last Modified: 28 Dec 2020, 9:37 p.m.
Panel Version: 0.197

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

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

Publications

Created: 28 Dec 2020, 9:37 p.m.
Last Modified: 28 Dec 2020, 9:37 p.m.
Panel version: 0.1938

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
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 1, MIM# 309800 Ogden syndrome MIM#300855
OMIM
300013
Clinvar variants
Variants in NAA10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NAA10 were changed from X-linked anophthalmia syndrome/Lenz; X-linked anophthalmia syndrome; NONPECIFIC SEVERE ID; OGDEN SYNDROME 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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NAA10 was added gene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NAA10 were set to X-linked anophthalmia syndrome/Lenz; X-linked anophthalmia syndrome; NONPECIFIC SEVERE ID; OGDEN SYNDROME