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Lissencephaly and Band Heterotopia v0.101 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Lissencephaly and Band Heterotopia v0.101 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Lissencephaly and Band Heterotopia v0.101 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840
Lissencephaly and Band Heterotopia v0.100 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.99 LARGE1 Zornitza Stark reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lissencephaly and Band Heterotopia v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to Unknown