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| Cerebellar and Pontocerebellar Hypoplasia v1.47 | ADAM22 | Alison Yeung Marked gene: ADAM22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.47 | ADAM22 | Alison Yeung Gene: adam22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.47 | ADAM22 | Alison Yeung Classified gene: ADAM22 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.47 | ADAM22 | Alison Yeung Gene: adam22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v1.46 | ADAM22 |
Lucy Spencer gene: ADAM22 was added gene: ADAM22 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAM22 were set to 35373813 Phenotypes for gene: ADAM22 were set to Developmental and epileptic encephalopathy 61 (MIM#617933) Review for gene: ADAM22 was set to GREEN Added comment: 19 additional patients (some related) all with compound het or homozygous ADAM22 variants. Including the previously described cases there are now 16 families with biallelic ADAM22 variants causing developmental epileptic encephalopathy. All had infantile onset epilepsy and moderate to profound global dev delay and ID. Cerebellar atrophy on MRI and hypotonia were seen in over half of the individuals. Functional studies suggest LOF- reduced protein expression/protein retained in ER and reduced cell surface expression. Variants described are a mix of missense and PTC. Sources: Literature |
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