Cancer Predisposition_Paediatric

Gene: ELP1

Green List (high evidence)

ELP1 (elongator complex protein 1)
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 13 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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: Literature
Created: 27 May 2020, 5:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paediatric medulloblastoma sonic hedgehog subtype

Publications

History Filter Activity

27 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elp1 has been classified as Green List (High Evidence).

27 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: elp1 has been classified as Green List (High Evidence).

27 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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