Genomics England
GMS Panels
Panels
Genes and Entities

ELP1

elongator complex protein 1
OMIM: 603722
PanelMode of inheritanceDetails
3 panels
Green
in Childhood solid tumours
Signed-off version 5.11
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Medulloblastoma, OMIM:155255
Green
in Embryonal tumour of possible germline origin
R-numbers: R456
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Medulloblastoma}, OMIM:155255
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial, OMIM:223900