Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v0.649 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Fetal anomalies v0.649 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.649 KRIT1 Zornitza Stark Phenotypes for gene: KRIT1 were changed from CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 to Cavernous malformations of CNS and retina MIM#116860; Cerebral cavernous malformations-1 MIM#116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860
Fetal anomalies v0.648 KRIT1 Zornitza Stark Publications for gene: KRIT1 were set to 28749478
Fetal anomalies v0.647 KRIT1 Zornitza Stark Mode of inheritance for gene: KRIT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.646 KRIT1 Zornitza Stark Classified gene: KRIT1 as Amber List (moderate evidence)
Fetal anomalies v0.646 KRIT1 Zornitza Stark Gene: krit1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.582 KRIT1 Ain Roesley reviewed gene: KRIT1: Rating: RED; Mode of pathogenicity: None; Publications: 34556564, 20301470; Phenotypes: Cavernous malformations of CNS and retina MIM#116860, Cerebral cavernous malformations-1 MIM#116860, Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations MIM#116860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v0.0 KRIT1 Zornitza Stark gene: KRIT1 was added
gene: KRIT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRIT1 were set to 28749478
Phenotypes for gene: KRIT1 were set to CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1