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Fetal anomalies v0.2056 LARGE1 Zornitza Stark Marked gene: LARGE1 as ready
Fetal anomalies v0.2056 LARGE1 Zornitza Stark Gene: large1 has been classified as Green List (High Evidence).
Fetal anomalies v0.2056 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154
Fetal anomalies v0.2055 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Fetal anomalies v0.2054 LARGE1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Severe end of the spectrum has congenital anomalies.
Fetal anomalies v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6