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Prepair 1000+

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

From Mendeliome PanelApp entry; Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. Most develop seizures in childhood and have speech delay. Other features, such as ocular abnormalities, foot deformities, hypoplasia of the corpus callosum, and decreased white matter, are more variable.

8 unrelated families, mouse model.
Created: 21 Jan 2025, 10:47 a.m. | Last Modified: 21 Jan 2025, 10:47 a.m.
Panel Version: 1.1257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 21 Jan 2025, 10:47 a.m.
Last Modified: 21 Jan 2025, 10:47 a.m.
Panel version: 1.1257

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756
OMIM
610876
Clinvar variants
Variants in HACE1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jan 2025, 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).

23 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HACE1 were changed from Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive to Spastic paraplegia and psychomotor retardation with or without seizures, MIM#616756

23 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HACE1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HACE1 was added gene: HACE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive