Adult onset hereditary spastic paraplegia

Gene: HACE1

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.

Panel Version: 1.95

Review of literature did not reveal any adult onset cases - complex neurodevelopmental disorder with onset in infancy and childhood only

The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.

Created: 17 Aug 2021, 4:33 p.m. | Last Modified: 17 Aug 2021, 4:33 p.m.

Panel Version: 1.38

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 26424145
• 26437029
• 29423242
• 31321300
• 33813722

Red List (low evidence)

Childhood onset.

Created: 22 Sep 2020, 4:02 a.m. | Last Modified: 22 Sep 2020, 4:02 a.m.

Panel Version: 1.7

I don't know

Childhood onset. Adult onset not reported.

Created: 9 May 2019, 5:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 26424145
• 26437029

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.

Created: 21 May 2019, 4:14 p.m.

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:50 p.m.

Green List (high evidence)

Victoria-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. 14pts in 6 unrelated families with Spastic paraplegia

Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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