Adult onset neurodegenerative disorder
Gene: HACE1
Spastic paraplegia and psychomotor retardation with or without seizures is an autosomal recessive complex neurodevelopmental disorder with onset in infancyCreated: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Onset in infancy or in the first months of life.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.Created: 14 Jan 2019, 9:39 a.m.
Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.Created: 8 Jan 2019, 2:54 p.m.
Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.Created: 20 Dec 2018, 3:12 p.m.
Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Amber by Chris Buxton.Created: 20 Dec 2018, 10:30 a.m.
Source Expert Review Red was added to HACE1. Rating Changed from Green List (high evidence) to Red List (low evidence)
Source Wessex and West Midlands GLH was added to HACE1.
Source Yorkshire and North East GLH was added to HACE1.
Source NHS GMS was added to HACE1.
Source London North GLH was added to HACE1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Rebecca Foulger: Gene awaiting curator evaluati
Gene: hace1 has been classified as Green List (High Evidence).
Gene: hace1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Gene: hace1 has been classified as Red List (Low Evidence).
Gene: hace1 has been removed from the panel.
gene: HACE1 was added gene: HACE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HACE1 were set to 26424145; 26437029 Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure