Cerebral Palsy

Gene: COL4A1

Green List (high evidence)

Additional 2 individuals reported with mono-allelic P/LP variants (1 frameshift deletion and 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.

Created: 27 May 2024, 4:52 a.m. | Last Modified: 27 May 2024, 4:56 a.m.

Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease MIM#614483

Publications

• PMID: 38693247

Green List (high evidence)

More than 8 individuals reported with heterozygous mutations in COL4A1 and CP in large cohort studies. Note that some of these mutations have been inherited from one parent so incomplete penetrance is likely. In one study, it is hypothesized that COL4A1 mutations can cause vascular instability and might thus pose a risk for perinatal intracranial hemorrhage resulting in CP.

Created: 23 May 2023, 2:08 a.m. | Last Modified: 4 Jun 2023, 10:39 p.m.

Panel Version: 1.86

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease MIM#614483

Publications

• 33528536
• 34531397

I don't know

One individual reported with variant in this gene and a CP phenotype PMID 31700678, and another with recurrent stroke PMID 17379824. However, note variable expressivity and penetrance generally associated with COL4A1 variants, and apply caution.
Sources: Literature

Created: 6 Oct 2020, 10:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Hemorrhage, intracerebral, susceptibility to}, MIM# 614519

Publications

• 31700678
• 17379824