Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: PAK3

Red List (low evidence)

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

1 review

David Amor (Murdoch Children's Research Institute)

Red List (low evidence)

Gene-disease association: strong, but rare. Moderate to severe mental retardation without seizures, statural growth deficiencies, or other physical abnormalities

Severity: severe

Age of onset: congenital

Non-molecular confirmatory testing: no

Treatment: symptomatic only therefore exclude
Created: 1 Nov 2022, 11:54 p.m. | Last Modified: 1 Nov 2022, 11:54 p.m.
Panel Version: 0.719

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
300558, Intellectual developmental disorder, X-linked 30

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Mental retardation syndrome, X-linked 30, MIM#300558
OMIM
300142
Clinvar variants
Variants in PAK3
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pak3 has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAK3 were changed from Mental retardation syndrome, X-linked to Mental retardation syndrome, X-linked 30, MIM#300558

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pak3 has been classified as Red List (Low Evidence).

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green 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