Cancer Predisposition_Paediatric
Gene: ELP1
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. Segregation was reported in one family and expected in another.
Sources: LiteratureCreated: 27 May 2020, 5:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paediatric medulloblastoma sonic hedgehog subtype
Publications
Gene: elp1 has been classified as Green List (High Evidence).
Gene: elp1 has been classified as Green List (High Evidence).
gene: ELP1 was added gene: ELP1 was added to Cancer Predisposition_Paediatric. 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