| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Childhood solid tumours v4.7 | PTCH1 | Arina Puzriakova Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v4.6 | PTCH1 | Arina Puzriakova Phenotypes for gene: PTCH1 were changed from 109400; Gorlin syndrome to Basal cell nevus syndrome 1, OMIM:109400; Gorlin syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v2.10 | ELP1 |
Arina Puzriakova gene: ELP1 was added gene: ELP1 was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ELP1 were set to 32296180 Phenotypes for gene: ELP1 were set to Medulloblastoma predisposition Review for gene: ELP1 was set to GREEN Added comment: PMID: 32296180 (2020) - Recurrent germline LOF variants of ELP1 detected in paediatric medulloblastoma (MB) cases; specifically the Sonic Hedgehog (SHH) subgroup, in which the variants were found in 14.4% (29/202) of patients. Inheritance of germline ELP1 LOF variants was confirmed by WES of three parent-offspring trios, two of which exhibited a family history of paediatric MB. Carriers of these variants tended to develop MB(SHH) as older children (median age at diagnosis: 6.3 years). ELP1-associated MB(SHH) tumours were significantly enriched for somatic alterations of PTCH1 (Sonic Hedgehog receptor), suggesting ELP1 LOF variants predispose to tumour development in combination with constitutive activation of SHH signalling. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.27 | PTCH1 | Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.26 | PTCH1 |
Ivone Leong Source NHS GMS was added to PTCH1. Mode of inheritance for gene PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Gorlin syndrome for gene: PTCH1 Publications for gene PTCH1 were changed from 8326488 to 13851319 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.23 | PTCH1 | Lara Hawkes reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gorlin syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours v1.22 | PTCH1 |
Ivone Leong Source Expert List was added to PTCH1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||