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Dystonia - complex

Gene: NAA15

No list
NAA15 (N(alpha)-acetyltransferase 15, NatA auxiliary subunit)
EnsemblGeneIds (GRCh38): ENSG00000164134
EnsemblGeneIds (GRCh37): ENSG00000164134
OMIM: 608000, Gene2Phenotype
NAA15 is in 9 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

previous 3 cases in literature referenced in 38380600
Sources: Literature
Created: 24 Feb 2024, 12:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
dystonia; neurodevelopmental delay

Publications

Created: 24 Feb 2024, 12:43 p.m.

Panel version: 0.234

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • dystonia
  • neurodevelopmental delay
OMIM
608000
Clinvar variants
Variants in NAA15
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

24 Feb 2024, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: NAA15 was added gene: NAA15 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NAA15 were set to 38380600 Phenotypes for gene: NAA15 were set to dystonia; neurodevelopmental delay Penetrance for gene: NAA15 were set to unknown Review for gene: NAA15 was set to GREEN