Cerebral Palsy
Gene: PAK3
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
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
Publications for gene: PAK3 were set to 25666757
Gene: pak3 has been classified as Green List (High Evidence).
Gene: pak3 has been classified as Red List (Low Evidence).
Phenotypes for gene: PAK3 were changed from to Intellectual developmental disorder, X-linked 30, MIM# 300558
Publications for gene: PAK3 were set to
Mode of inheritance for gene: PAK3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: pak3 has been classified as Red List (Low Evidence).
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