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| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Marked gene: GABRB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Gene: gabrb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Classified gene: GABRB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Gene: gabrb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | GABRB1 |
Luisa Weiss gene: GABRB1 was added gene: GABRB1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 34540776 Phenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy MIM#617153 Review for gene: GABRB1 was set to RED Added comment: One large cohort study on CP patients from Iran presents one patient with a heterozygous mutation in GABRB1 and atypical CP with developmental delay, ID and microcephaly. The patient's mutation (NM_000812:c.1243G>C,p.G415R) is present in a heterozygous state in the patient and no information about inheritance is given. The authors propose a recessively inherited disease. The variant is classified as a variant of unknown significance in this paper. Sources: Literature |
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