PanelApp
  1. Genes and Genomic Entities
  2. HACE1

HACE1

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green HACE1 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
  • MONDO:0014764

Green HACE1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
    • MONDO:0014764

    Green HACE1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
    • MONDO:0014764

    Amber HACE1 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.288

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756

    Green HACE1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.102

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
    • MONDO:0014764
    • Spastic paraplegia
    • psychomotor retardation

    Amber HACE1 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.234

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756

    Green HACE1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive

    Amber HACE1 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures, 616756
    • MONDO:0014764

    Green HACE1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756