Activity
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| Ataxia and cerebellar anomalies - narrow panel v8.23 | CDK5 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 2 unrelated families with the same severe phenotype comprising lissencephaly with cerebellar hypoplasia and supportive animal models. Other lissencephaly genes also included on this panel (RELN, TUBA1A) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | TUBA1A |
Ellen McDonagh gene: TUBA1A was added gene: TUBA1A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TUBA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBA1A were set to 17218254, 17584854 Phenotypes for gene: TUBA1A were set to Lissencephaly 3 6,1603 |
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