Adult onset hereditary spastic paraplegia

Gene: AP4B1

I don't know

The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.

Created: 4 May 2024, 4:56 p.m. | Last Modified: 4 May 2024, 4:58 p.m.

Panel Version: 4.3

The to_be_confirmed_NHSE tag has been added, as further NHSE review is required.

Created: 15 Mar 2022, 3:55 p.m. | Last Modified: 15 Mar 2022, 3:55 p.m.

Panel Version: 1.95

Review of literature did not reveal any adult onset published cases.

Tagged 'for-review' to highlight that this is a childhood onset condition and therefore AP4B1 should be downgraded to Red on this panel at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.

Created: 5 Jan 2021, 3:32 p.m. | Last Modified: 5 Jan 2021, 5:42 p.m.

Panel Version: 1.15

Red List (low evidence)

Childhood onset.

Created: 20 Sep 2020, 7:56 a.m. | Last Modified: 20 Sep 2020, 7:56 a.m.

Panel Version: 1.7

I don't know

Childhood onset only; small number of patients. Associated with severe mental retardation.

Created: 3 May 2019, 4:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 21620353, 24700674

Variants in this GENE are reported as part of current diagnostic practice

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: neonatal onset. Neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development, some dysmorphic features. MRI: thin corpus callosum, white matter abnormality.. Several oublications. In Sheffields HSP panel

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 47, autosomal recessive, 614066