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| Cerebral Palsy v1.193 | COL4A1 | Clare van Eyk changed review comment from: Additional 2 individuals reproted 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.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.193 | COL4A1 | Clare van Eyk reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Brain small vessel disease MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | COL4A1 | Luisa Weiss changed review comment from: More than 8 individuals reported with heterozygous mutations in COL4A2 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 COL4A2 mutations can cause vascular instability and might thus pose a risk for perinatal intracranial hemorrhage resulting in CP.; to: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.61 | COL4A1 | Zornitza Stark Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519 to {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519; Brain small vessel disease MIM#614483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.60 | COL4A1 | Zornitza Stark Publications for gene: COL4A1 were set to 31700678; 17379824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.59 | COL4A1 | Zornitza Stark Classified gene: COL4A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.59 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | COL4A1 | Luisa Weiss reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34531397; Phenotypes: Brain small vessel disease MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.32 | COL4A1 | Zornitza Stark Marked gene: COL4A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.32 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.32 | COL4A1 | Zornitza Stark Classified gene: COL4A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.32 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v0.31 | COL4A1 |
Zornitza Stark gene: COL4A1 was added gene: COL4A1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL4A1 were set to 31700678; 17379824 Phenotypes for gene: COL4A1 were set to {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519 Review for gene: COL4A1 was set to AMBER Added comment: 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 |
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