Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Fetal anomalies v0.1896 TRPV6 Zornitza Stark commented on gene: TRPV6: The bi-allleic disorder is pertinent to this panel.
Fetal anomalies v0.1896 TRPV6 Zornitza Stark Phenotypes for gene: TRPV6 were changed from Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism to Hyperparathyroidism, transient neonatal, MIM#618188
Fetal anomalies v0.1895 TRPV6 Zornitza Stark Publications for gene: TRPV6 were set to 29861107
Fetal anomalies v0.1894 TRPV6 Zornitza Stark Mode of inheritance for gene: TRPV6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1893 TRPV6 Zornitza Stark reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.1869 TRPV6 Alison Yeung Marked gene: TRPV6 as ready
Fetal anomalies v0.1869 TRPV6 Alison Yeung Gene: trpv6 has been classified as Green List (High Evidence).
Fetal anomalies v0.1869 TRPV6 Alison Yeung Mode of inheritance for gene: TRPV6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1869 TRPV6 Alison Yeung Mode of inheritance for gene: TRPV6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.1868 TRPV6 Alison Yeung reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32383311, 31930989, 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188, Early onset chronic pancreatitis susceptibility; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 TRPV6 Zornitza Stark gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, 618188; Transient Neonatal Hyperparathyroidism