Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Fetal anomalies v0.3681 GRIK2 Zornitza Stark Marked gene: GRIK2 as ready
Fetal anomalies v0.3681 GRIK2 Zornitza Stark Gene: grik2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3681 GRIK2 Zornitza Stark Phenotypes for gene: GRIK2 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 to Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580
Fetal anomalies v0.3680 GRIK2 Zornitza Stark Publications for gene: GRIK2 were set to
Fetal anomalies v0.3679 GRIK2 Zornitza Stark Mode of inheritance for gene: GRIK2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.3678 GRIK2 Zornitza Stark Classified gene: GRIK2 as Amber List (moderate evidence)
Fetal anomalies v0.3678 GRIK2 Zornitza Stark Gene: grik2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.3677 GRIK2 Zornitza Stark reviewed gene: GRIK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with impaired language and ataxia and with or without seizures, MIM# 619580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v0.0 GRIK2 Zornitza Stark gene: GRIK2 was added
gene: GRIK2 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: GRIK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRIK2 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6