Adult onset hereditary spastic paraplegia
Gene: AP4B1
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
Childhood onset.Created: 20 Sep 2020, 7:56 a.m. | Last Modified: 20 Sep 2020, 7:56 a.m.
Panel Version: 1.7
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
Variants in this GENE are reported as part of current diagnostic practice
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.
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 panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 47, autosomal recessive, 614066
Tag for-review was removed from gene: AP4B1. Tag to_be_confirmed_NHSE was removed from gene: AP4B1.
Source Expert Review Amber was added to AP4B1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag to_be_confirmed_NHSE tag was added to gene: AP4B1.
Phenotypes for gene: AP4B1 were changed from Spastic paraplegia 47, autosomal recessive, 614066 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
Tag for-review tag was added to gene: AP4B1.
Publications for gene: AP4B1 were set to
Source Yorkshire and North East GLH was added to AP4B1.
Source Expert Review Green was added to AP4B1. Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AP4B1.
gene: AP4B1 was added gene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4B1 was set to