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Cerebral Palsy

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

2 reviews

Luisa Weiss (University of Adelaide)

Green List (high evidence)

Iida presented two brothers with hemizygous PAK3 mutation and severe ID and non-progressive spastic quadriplegia. In an extensive literature review they found that 4/40 patients reported with PAK3 variants so far also presented with spastic quadriplegia.
In addition, in 2 large CP cohort studies there are three more cases with maternally inherited PAK3 mutations.
Note that the most common presentation of PAK3 mutations is a non-syndromic ID, but CP might be an additional feature.
Created: 27 Jun 2023, 2:29 a.m. | Last Modified: 27 Jun 2023, 2:29 a.m.
Panel Version: 1.88

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

Phenotypes
Intellectual developmental disorder, X-linked MIM#300558

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Intellectual disability with some dysmorphic features and psychiatric features, but reported in a CP cohort in a single patient, maternally inherited missense variant, no further evidence to support pathogenicity.
Created: 23 Sep 2021, 8:38 a.m. | Last Modified: 23 Sep 2021, 8:38 a.m.
Panel Version: 0.134

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

Phenotypes
Intellectual developmental disorder, X-linked 30, MIM# 300558

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked 30, MIM# 300558
OMIM
300142
Clinvar variants
Variants in PAK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAK3 were set to 25666757

21 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pak3 has been classified as Green List (High Evidence).

23 Sep 2021, 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).

23 Sep 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAK3 were changed from to Intellectual developmental disorder, X-linked 30, MIM# 300558

23 Sep 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAK3 were set to

23 Sep 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

23 Sep 2021, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAK3 was added gene: PAK3 was added to Cerebral Palsy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAK3 was set to Unknown