Childhood solid tumours

Gene: ELP1

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 11:11 a.m. | Last Modified: 3 Mar 2022, 11:11 a.m.

Panel Version: 2.25

Comment on list classification: There is enough evidence for this gene to to rated GREEN at the next major review.

Created: 5 Aug 2020, 3:06 p.m. | Last Modified: 5 Aug 2020, 3:06 p.m.

Panel Version: 2.11

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

Created: 5 Aug 2020, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Medulloblastoma predisposition

Publications

• 32296180