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Additional findings_Paediatric

Gene: PAK3

Green List (high evidence)

PAK3 (p21 (RAC1) activated kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000077264
EnsemblGeneIds (GRCh37): ENSG00000077264
OMIM: 300142, Gene2Phenotype
PAK3 is in 10 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Mental retardation syndrome, X-linked
OMIM
300142
Clinvar variants
Variants in PAK3
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAK3 was added gene: PAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked