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| Aortopathy_Connective Tissue Disorders v1.64 | KCNMA1 | Zornitza Stark Marked gene: KCNMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.64 | KCNMA1 | Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.64 | KCNMA1 | Zornitza Stark Classified gene: KCNMA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.64 | KCNMA1 | Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.63 | KCNMA1 |
Zornitza Stark gene: KCNMA1 was added gene: KCNMA1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNMA1 were set to 31152168 Phenotypes for gene: KCNMA1 were set to Liang-Wang syndrome, MIM# 618729 Review for gene: KCNMA1 was set to GREEN Added comment: Mono-allelic and bi-allelic variants in this gene are associated with a range of neurological phenotypes. However, 8 unrelated individuals reported with de novo missense variants and a multiple malformations syndrome, which includes vascular tortuosity/ectasia and aortic aneurysm as features. Sources: Expert list |
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