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Genetic epilepsy syndromes

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 8 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR spastic paraplegia and psychomotor retardation with or without seizures. Most develop seizures in childhood and have speech delay. Hollstein et al, 2015 - 8 individuals from 2 unrelated families aged 3-22 years. 1 family consang from Pakistan and the other of German descent (3 aff sibs), all 5 patients in family A had seizures - most commonly myoclonic, 1/3 patients in family B had epilepsy (his twin brother does not). Biallelic truncating mutations identified. Patoient cells from 1 family showed me detectable HACE1 protein using antipbodies. Akawi et al, 2015 - 6 patients from 4 unrelated families - 3 families consang. 4/6 had seizures. hom or compound het mutations - one resulted in a deletion of a conserved residue and the rest were predicted to result in a truncated protein.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures, 616756

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in 6 unrelated cases, with seizures reported in 5 cases.
Created: 10 Apr 2018, 9:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia and psychomotor retardation with or without seizures 616756

Publications

Details

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to HACE1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to HACE1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

HACE1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

HACE1 was created by Sarah Leigh