Cerebral Palsy

Gene: PAK3

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

• 31444167
• 30542205
• 25666757

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

• 25666757