| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebral Palsy v1.338 | LAMA1 | Zornitza Stark Marked gene: LAMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.338 | LAMA1 | Zornitza Stark Gene: lama1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.338 | LAMA1 | Zornitza Stark Classified gene: LAMA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.338 | LAMA1 | Zornitza Stark Gene: lama1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.291 | LAMA1 |
Clare van Eyk gene: LAMA1 was added gene: LAMA1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to PMID: 38693247 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, MIM#615960 Review for gene: LAMA1 was set to RED Added comment: 1 individual reported with biallelic pathogenic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Cerebellar cysts and periventricular white matter abnormalities are common imaging findings in Poretti-Boltshauser syndrome. Sources: Literature |
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