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Polymicrogyria and Schizencephaly v0.33 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.33 | BICD2 | Zornitza Stark Added comment: Comment when marking as ready: Mild polymicrogyria described in SMA, 2B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.33 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.33 | BICD2 | Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.32 | BICD2 | Zornitza Stark Publications for gene: BICD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.31 | BICD2 | Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.30 | BICD2 | Elena Savva reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28635954, 32057122; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A. MIM: 615290, Spinal muscular atrophy, lower extremity-predominant, 2B. MIM: 618291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Polymicrogyria and Schizencephaly v0.0 | BICD2 |
Zornitza Stark gene: BICD2 was added gene: BICD2 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: BICD2 was set to Unknown |