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  3. NAA25
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: NAA25

Red List (low evidence)
NAA25 (N(alpha)-acetyltransferase 25, NatB auxiliary subunit)
EnsemblGeneIds (GRCh38): ENSG00000111300
EnsemblGeneIds (GRCh37): ENSG00000111300
OMIM: 612755, Gene2Phenotype
NAA25 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

One individual was described with sagittal synostosis to harbour a de novo frameshifting variant in NAA25 (p.Phe359fs*) (PMID:30152016).
Sources: Literature
Created: 23 Jul 2023, 4:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 23 Jul 2023, 4:48 p.m.

Panel version: 4.143

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
612755
Clinvar variants
Variants in NAA25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NAA25 was added gene: NAA25 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: NAA25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NAA25 were set to 30152016; 36980886 Phenotypes for gene: NAA25 were set to craniosynostosis, MONDO:0015469 Review for gene: NAA25 was set to RED