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Fetal anomalies v2.24 chirag patel Added reviews for gene NADSYN1 from panel Mendeliome
Fetal anomalies v2.0 SYN1 Gene migrated from ENSG00000008056 to ENSG00000008056 (gene set migration)
Fetal anomalies v0.2582 SYN1 Zornitza Stark Marked gene: SYN1 as ready
Fetal anomalies v0.2582 SYN1 Zornitza Stark Gene: syn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2582 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS to Epilepsy, X-linked, with variable learning disabilities and behaviour disorders, MIM# 300491; Intellectual developmental disorder, X-linked 50, MIM# 300115
Fetal anomalies v0.2213 SYN1 chirag patel Classified gene: SYN1 as Red List (low evidence)
Fetal anomalies v0.2213 SYN1 chirag patel Gene: syn1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.2212 SYN1 chirag patel reviewed gene: SYN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Marked gene: NADSYN1 as ready
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.824 NADSYN1 Zornitza Stark Publications for gene: NADSYN1 were set to
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Classified gene: NADSYN1 as Green List (high evidence)
Fetal anomalies v0.823 NADSYN1 Zornitza Stark Gene: nadsyn1 has been classified as Green List (High Evidence).
Fetal anomalies v0.822 NADSYN1 Zornitza Stark reviewed gene: NADSYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31883644; Phenotypes: Multiple congenital abnormalities, absent kidneys, cardiac, limb, vertebral; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 SYN1 Zornitza Stark gene: SYN1 was added
gene: SYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
Fetal anomalies v0.0 NADSYN1 Zornitza Stark gene: NADSYN1 was added
gene: NADSYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845