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  3. HACE1
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Hereditary Spastic Paraplegia - paediatric

Gene: HACE1

Green List (high evidence)
HACE1 (HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1)
EnsemblGeneIds (GRCh38): ENSG00000085382
EnsemblGeneIds (GRCh37): ENSG00000085382
OMIM: 610876, Gene2Phenotype
HACE1 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two additional families and mouse model.
Created: 14 Mar 2021, 5:29 a.m. | Last Modified: 14 Mar 2021, 5:29 a.m.
Panel Version: 0.190

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764

Publications

Created: 14 Mar 2021, 5:29 a.m.
Last Modified: 14 Mar 2021, 5:29 a.m.
Panel version: 0.190

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 families with a complicated HSP phenotype.
Created: 19 Apr 2020, 10:19 a.m. | Last Modified: 19 Apr 2020, 10:19 a.m.
Panel Version: 0.71

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756

Publications

Created: 19 Apr 2020, 10:19 a.m.
Last Modified: 19 Apr 2020, 10:19 a.m.
Panel version: 0.71

Details

Mode of Inheritance
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
OMIM
610876
Clinvar variants
Variants in HACE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hace1 has been classified as Green List (High Evidence).

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HACE1 were set to 26424145; 26437029

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HACE1 were changed from seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764; Spastic paraplegia; psychomotor retardation

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HACE1 were set to

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HACE1 was added gene: HACE1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HACE1 were set to seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation