NAA10

N(alpha)-acetyltransferase 10, NatA catalytic subunit
OMIM: 300013, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Red NAA10 in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes Microphthalmia, syndromic 1, 309800
Green NAA10 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes X-linked anophthalmia syndrome/Lenz OGDEN SYNDROME NONPECIFIC SEVERE ID X-linked anophthalmia syndrome
Green NAA10 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes X-linked anophthalmia syndrome/Lenz NONPECIFIC SEVERE ID X-linked anophthalmia syndrome OGDEN SYNDROME 300855
Green NAA10 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes N-terminal acetyltransferase deficiency, 300855 NONPECIFIC SEVERE ID
Green NAA10 in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	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 NHS GMS Phenotypes Microphthalmia, syndromic 1, 309800
Amber NAA10 in Paediatric or syndromic cardiomyopathy Version 3.47 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Ogden syndrome, OMIM:300855
Green NAA10 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Microphthalmia, syndromic 1, 309800 Ogden syndrome, 300855