Early onset or syndromic epilepsy
Gene: HACE1
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
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
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
Publications for gene: HACE1 were set to 26437029; 26424145
Source Wessex and West Midlands GLH was added to HACE1.
Source NHS GMS was added to HACE1.
Sarah Leigh: Gene originally listed on the
This gene has been classified as Green List (High Evidence).
HACE1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review
HACE1 was created by Sarah Leigh