Genomics England
GMS Panels
Panels
Genes and Entities

ELP1

elongator complex protein 1
OMIM: 603722
PanelMode of inheritanceDetails
2 panels
Green
in Hereditary neuropathy NOT PMP22 copy number
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial, 223900
Green
in Tumour predisposition - childhood onset
R-numbers: R359
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Medulloblastoma predisposition