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Fetal anomalies v0.4367 SMARCA2 Zornitza Stark Marked gene: SMARCA2 as ready
Fetal anomalies v0.4367 SMARCA2 Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence).
Fetal anomalies v0.4367 SMARCA2 Zornitza Stark Phenotypes for gene: SMARCA2 were changed from COFFIN SIRIS; NICOLAIDES-BARAITSER SYNDROME to Nicolaides-Baraitser syndrome, MIM #601358; Blepharophimosis-intellectual disability syndrome
Fetal anomalies v0.4366 SMARCA2 Zornitza Stark Publications for gene: SMARCA2 were set to
Fetal anomalies v0.4365 SMARCA2 Zornitza Stark Mode of pathogenicity for gene: SMARCA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v0.4364 SMARCA2 Zornitza Stark Mode of inheritance for gene: SMARCA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.362 CA2 Zornitza Stark Marked gene: CA2 as ready
Fetal anomalies v0.362 CA2 Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence).
Fetal anomalies v0.362 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Fetal anomalies v0.361 CA2 Zornitza Stark changed review comment from: Intellectual disability is part of the phenotype in some patients.; to: Can present perinatally.
Fetal anomalies v0.341 BRCA2 Zornitza Stark Marked gene: BRCA2 as ready
Fetal anomalies v0.341 BRCA2 Zornitza Stark Gene: brca2 has been classified as Green List (High Evidence).
Fetal anomalies v0.341 BRCA2 Zornitza Stark Phenotypes for gene: BRCA2 were changed from FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 to Fanconi anaemia, complementation group D1, MIM# 605724
Fetal anomalies v0.340 BRCA2 Zornitza Stark edited their review of gene: BRCA2: Changed rating: GREEN; Changed phenotypes: Fanconi anaemia, complementation group D1, MIM# 605724
Fetal anomalies v0.0 SMARCA2 Zornitza Stark gene: SMARCA2 was added
gene: SMARCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SMARCA2 were set to COFFIN SIRIS; NICOLAIDES-BARAITSER SYNDROME
Fetal anomalies v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3
Fetal anomalies v0.0 BRCA2 Zornitza Stark gene: BRCA2 was added
gene: BRCA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRCA2 were set to FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1