Genomics England
GMS Panels
Panels
Genes and Entities

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
OMIM: 610876
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures, 616756, Spastic paraplegia, seizure, psychomotor retardation
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HACE1 related disorder
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures 616756
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures 616756