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Familial rhabdoid tumours v1.10 Arina Puzriakova Panel version 1.9 has been signed off on 2024-08-07
Familial rhabdoid tumours v1.9 Arina Puzriakova Panel name changed from Rhabdoid tumour predisposition to Familial rhabdoid tumours
List of related panels changed from R358 to Rhabdoid tumour predisposition; R358
Familial rhabdoid tumours v1.6 SMARCB1 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Rhabdoid tumors, somatic (MIM# 609322); {Schwannomatosis-1, susceptibility to} (MIM# 162091); Coffin-Siris syndrome 3 (MIM# 614608)
Familial rhabdoid tumours v1.6 SMARCB1 Arina Puzriakova Phenotypes for gene: SMARCB1 were changed from to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252
Familial rhabdoid tumours v1.5 SMARCA4 Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 4 (MIM# 614609)
Familial rhabdoid tumours v1.5 SMARCA4 Arina Puzriakova Phenotypes for gene: SMARCA4 were changed from to {Rhabdoid tumor predisposition syndrome 2}, OMIM:613325; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224
Familial rhabdoid tumours v1.3 Catherine Snow Panel version has been signed off
Familial rhabdoid tumours v1.0 Ivone Leong promoted panel to version 1.0
Familial rhabdoid tumours v0.9 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Familial rhabdoid tumours v0.8 SMARCB1 Ivone Leong commented on gene: SMARCB1
Familial rhabdoid tumours v0.8 SMARCA4 Ivone Leong commented on gene: SMARCA4
Familial rhabdoid tumours v0.8 Ivone Leong List of related panels changed from to R358
Familial rhabdoid tumours v0.7 Ivone Leong Panel name changed from GMS - Familial rhabdoid tumours to Rhabdoid tumour predisposition
Familial rhabdoid tumours v0.6 SMARCB1 Ivone Leong Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial rhabdoid tumours v0.5 SMARCA4 Ivone Leong Mode of inheritance for gene: SMARCA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial rhabdoid tumours v0.4 SMARCB1 Ivone Leong Classified gene: SMARCB1 as Green List (high evidence)
Familial rhabdoid tumours v0.4 SMARCB1 Ivone Leong Gene: smarcb1 has been classified as Green List (High Evidence).
Familial rhabdoid tumours v0.3 SMARCA4 Ivone Leong Classified gene: SMARCA4 as Green List (high evidence)
Familial rhabdoid tumours v0.3 SMARCA4 Ivone Leong Gene: smarca4 has been classified as Green List (High Evidence).
Familial rhabdoid tumours v0.2 SMARCA4 Rachel Robinson reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial rhabdoid tumours v0.2 SMARCB1 Rachel Robinson reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial rhabdoid tumours v0.2 SMARCA4 Lara Hawkes reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial rhabdoid tumours v0.2 SMARCB1 Lara Hawkes reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial rhabdoid tumours 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
Familial rhabdoid tumours 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
Familial rhabdoid tumours v0.0 Ivone Leong Added Panel GMS - Familial rhabdoid tumours
Set panel types to: GMS Rare Disease