Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Rhabdoid tumour predisposition v1.0 Ivone Leong promoted panel to version 1.0
Rhabdoid tumour predisposition v0.9 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Rhabdoid tumour predisposition v0.8 SMARCB1 Ivone Leong commented on gene: SMARCB1
Rhabdoid tumour predisposition v0.8 SMARCA4 Ivone Leong commented on gene: SMARCA4
Rhabdoid tumour predisposition v0.8 Ivone Leong List of related panels changed from to R358
Rhabdoid tumour predisposition v0.7 Ivone Leong Panel name changed from GMS - Familial rhabdoid tumours to Rhabdoid tumour predisposition
Rhabdoid tumour predisposition v0.6 SMARCB1 Ivone Leong Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rhabdoid tumour predisposition v0.5 SMARCA4 Ivone Leong Mode of inheritance for gene: SMARCA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rhabdoid tumour predisposition v0.4 SMARCB1 Ivone Leong Classified gene: SMARCB1 as Green List (high evidence)
Rhabdoid tumour predisposition v0.4 SMARCB1 Ivone Leong Gene: smarcb1 has been classified as Green List (High Evidence).
Rhabdoid tumour predisposition v0.3 SMARCA4 Ivone Leong Classified gene: SMARCA4 as Green List (high evidence)
Rhabdoid tumour predisposition v0.3 SMARCA4 Ivone Leong Gene: smarca4 has been classified as Green List (High Evidence).
Rhabdoid tumour predisposition v0.2 SMARCA4 Rachel Robinson reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rhabdoid tumour predisposition v0.2 SMARCB1 Rachel Robinson reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Rhabdoid tumour predisposition v0.2 SMARCA4 Lara Hawkes reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdoid tumour predisposition v0.2 SMARCB1 Lara Hawkes reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Rhabdoid tumour predisposition v0.1 SMARCA4 Ivone Leong gene: SMARCA4 was added
gene: SMARCA4 was added to GMS - Familial rhabdoid tumours. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: SMARCA4 was set to
Rhabdoid tumour predisposition v0.1 SMARCB1 Ivone Leong gene: SMARCB1 was added
gene: SMARCB1 was added to GMS - Familial rhabdoid tumours. Sources: Expert Review,NHS GMS
Mode of inheritance for gene: SMARCB1 was set to
Rhabdoid tumour predisposition v0.0 Ivone Leong Added Panel GMS - Familial rhabdoid tumours
Set panel types to: GMS Rare Disease