Cerebral Palsy
Gene: NAA10EnsemblGeneIds (GRCh38): ENSG00000102030
EnsemblGeneIds (GRCh37): ENSG00000102030
OMIM: 300013, Gene2Phenotype
NAA10 is in 11 panels
1 review
Luisa Weiss (University of Adelaide)
Four individual cases in two large CP cohort studies. Note that in one publication (33528536) 2/3 mutations occurred de novo.
Sources: LiteratureCreated: 27 Jun 2023, 1:12 a.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 MIM#309800; Ogden syndrome MIM#300855
Publications
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
- Phenotypes
-
- Ogden syndrome MIM#300855
- OMIM
- 300013
- Clinvar variants
- Variants in NAA10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: naa10 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic MIM#309800; Ogden syndrome MIM#300855 to Ogden syndrome MIM#300855
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: naa10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: NAA10 was added gene: NAA10 was added to Cerebral Palsy. Sources: Literature 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) Publications for gene: NAA10 were set to 33528536; 30542205 Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic MIM#309800; Ogden syndrome MIM#300855 Review for gene: NAA10 was set to GREEN