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Severe Paediatric Disorders

Gene: NAA10

Green List (high 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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NAA10; Recommended initial gene rating: Green List (high evidence); Phenotypes: ?Microphthalmia, syndromic 1, 309800 (3) | Ogden syndrome, 300855 (3); Mode of inheritance: X-linked | X-linked recessive, X-linked dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

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
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • ?Microphthalmia, syndromic 1, 309800
  • Ogden syndrome, 300855
OMIM
300013
Clinvar variants
Variants in NAA10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NAA10 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene NAA10 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ogden syndrome, 300855; ?Microphthalmia, syndromic 1, 309800 for gene: NAA10

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to NAA10.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to NAA10. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NAA10 was added gene: NAA10 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NAA10 was set to