Cerebral Palsy

Gene: PROC

Green List (high evidence)

Two larger CP cohort studies with one patient each harboring PROC mutation. Note that one of the patients had biallelic and the other patient one heterozygous mutation, both mono- and biallelic variants in this gene have been associated with disease. In addition one family described with two children and CP due to biallelic PROC mutations.

Created: 25 Jul 2023, 6:53 a.m. | Last Modified: 25 Jul 2023, 6:53 a.m.

Panel Version: 1.133

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304

Publications

• 31700678
• 20187890
• 34531397

I don't know

Bi-allelic PROC variants described in 2 families presenting as complex CP. Other features such as purpura fulminans may be present depending on severity.
Sources: Literature

Created: 6 Oct 2020, 10:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombophilia due to protein C deficiency, autosomal recessive, MIM# 612304

Publications

• 31700678
• 20187890