Structural eye disease
Gene: NAA10
esmailpour one family; Johnston three families, all variants are UTR variants but segregate in large familiesCreated: 19 Jun 2019, 3:32 p.m.
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
Microphthalmia, syndromic 1; 309800
Publications
Mode of pathogenicity
other - please provide details in the comments
Comment on list classification: Promoted to Green based on expert review.Created: 29 Oct 2019, 11:46 a.m. | Last Modified: 29 Oct 2019, 11:46 a.m.
Panel Version: 0.94
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). esmailpour one family; Johnston three families, all variants are UTR variants but segregate in large familiesCreated: 17 Apr 2019, 3:30 p.m.
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
Microphthalmia, syndromic 1, 309800
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Gene: naa10 has been classified as Green List (High Evidence).
Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, 309800; Microphthalmia, syndromic 1, 309800 to Microphthalmia, syndromic 1, 309800
Source NHS GMS was added to NAA10. Mode of inheritance for gene NAA10 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mode of pathogenicity for gene NAA10 was changed from to other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 1, 309800 for gene: NAA10 Publications for gene NAA10 were changed from 24431331, 20301694 to 30842225; 24431331
gene: NAA10 was added gene: NAA10 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: NAA10 were set to 24431331, 20301694 Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic 1, 309800