HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
OMIM: 610876
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HACE1 related disorder
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures 616756
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures, 616756, Spastic paraplegia, seizure, psychomotor retardation
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures 616756