| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Childhood solid tumours cancer susceptibility v1.19 | ELP1 | Arina Puzriakova Phenotypes for gene: ELP1 were changed from Paediatric medulloblastoma Sonic Hedgehog subtype to Medulloblastoma, OMIM:155255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours cancer susceptibility v1.7 | ELP1 | Arina Puzriakova Classified gene: ELP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours cancer susceptibility v1.7 | ELP1 | Arina Puzriakova Gene: elp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours cancer susceptibility v1.6 | ELP1 | Arina Puzriakova reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32296180; Phenotypes: Medulloblastoma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood solid tumours cancer susceptibility v1.6 | ELP1 |
Zornitza Stark gene: ELP1 was added gene: ELP1 was added to Childhood solid tumours cancer susceptibility. Sources: Literature Mode of inheritance for gene: ELP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP1 were set to 32296180 Phenotypes for gene: ELP1 were set to Paediatric medulloblastoma Sonic Hedgehog subtype Review for gene: ELP1 was set to GREEN gene: ELP1 was marked as current diagnostic Added comment: Medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||