1. Genes and Genomic Entities
  2. HACE1

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
OMIM: 610876, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green HACE1 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.316

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia
  • psychomotor retardation
  • seizure
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Green HACE1 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.39
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
  • Spastic paraplegia
  • seizure
  • psychomotor retardation
Amber HACE1 in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.9
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • seizure
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
  • psychomotor retardation
  • Spastic paraplegia
Red HACE1 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.19
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert list
Phenotypes
  • Spastic paraplegia
  • psychomotor retardation
  • seizure
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Red HACE1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.169
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • HACE1 related disorder
Green HACE1 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HACE1 related disorder
    Green HACE1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.159
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures 616756
    Green HACE1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures 616756