Ocular coloboma

Gene: NAA10

Red List (low evidence)

NAA10 (N(alpha)-acetyltransferase 10, NatA catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000102030
EnsemblGeneIds (GRCh37): ENSG00000102030
OMIM: 300013, Gene2Phenotype
NAA10 is in 6 panels

1 review

Alice Gardham (Genomics England)

Coloboma seen in 60% of affected individuals. recognised on G2P
Created: 17 Nov 2016, 12:04 p.m.

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

Phenotypes
Microphthalmia, syndromic 1, 309800

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • Microphthalmia, syndromic 1, 309800
OMIM
300013
Clinvar variants
Variants in NAA10
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 0

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

17 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

NAA10 was added to Ocular colobomapanel. Sources: Literature

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

NAA10 was created by agardham