| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Muscular dystrophy and myopathy_Paediatric v0.21 | COL4A2 | Zornitza Stark Marked gene: COL4A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.21 | COL4A2 | Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.21 | COL4A2 | Zornitza Stark Classified gene: COL4A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.21 | COL4A2 | Zornitza Stark Gene: col4a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.15 | COL4A2 |
Elena Savva gene: COL4A2 was added gene: COL4A2 was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A2 were set to PMID: 25719457; 30315939 Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2 614483 Penetrance for gene: COL4A2 were set to Incomplete Mode of pathogenicity for gene: COL4A2 was set to Other Review for gene: COL4A2 was set to RED Added comment: OMIM reports - Variable severity - Incomplete penetrance PMID: 25719457 - 0/15 heterozygous carriers report any myopathy phenotype. Majority had porencephaly or periventricular leukoencephalopathy. PMID: 30315939 - two patients with schizencephaly and/or polymicrogyria. Authors specifically noted myopathy was not observed in any patient, one was reported to have normal CK levels. Both LOF and dominant negative are suggested mechanisms for this gene. Sources: Expert list |
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