Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Childhood solid tumours v1.27 | NF2 | Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.26 | TINF2 |
Ivone Leong gene: TINF2 was added gene: TINF2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.26 | NF2 |
Ivone Leong Source NHS GMS was added to NF2. Mode of inheritance for gene NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Acoustic neuroma for gene: NF2 Publications for gene NF2 were changed from to 23788249 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.23 | NF2 | Lara Hawkes reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acoustic neuroma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v1.22 | NF2 |
Ivone Leong Source Expert List was added to NF2. Rating Changed from Green List (high evidence) to Green List (high evidence) |