Childhood solid tumours cancer susceptibility
Gene: ELP1
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.Created: 4 Aug 2020, 11:41 a.m. | Last Modified: 4 Aug 2020, 11:41 a.m.
Panel Version: 1.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Medulloblastoma
Publications
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: LiteratureCreated: 3 Jun 2020, 10:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paediatric medulloblastoma Sonic Hedgehog subtype
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: ELP1 were changed from Paediatric medulloblastoma Sonic Hedgehog subtype to Medulloblastoma, OMIM:155255
Gene: elp1 has been classified as Green List (High Evidence).
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