Adult onset hereditary spastic paraplegia
Gene: AP4E1The 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
Tagged 'for-review' to highlight the expert reviews indicating that this is a childhood onset condition and therefore AP4E1 should be downgraded to Red on this panel at the next GMS panel update.
There are at least 21 individuals from 11 unrelated families reported in literature (PMID: 32979048) and where details were provided all were childhood onset. Although it may be inferred, it should be considered that information regarding age was not available for 3 families. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 5 Jan 2021, 5:43 p.m. | Last Modified: 5 Jan 2021, 5:43 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
Appears to be childhood onset only. Few patients reported but sufficient to show association.Created: 3 May 2019, 4:11 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-childhood onset. Several publications. In Sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 51, autosomal recessive, 613744
Tag to_be_confirmed_NHSE tag was added to gene: AP4E1.
Tag for-review tag was added to gene: AP4E1.
Publications for gene: AP4E1 were set to 21620353; 23472171
Phenotypes for gene: AP4E1 were changed from Spastic paraplegia 51, autosomal recessive, 613744 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
Publications for gene: AP4E1 were set to
Source Yorkshire and North East GLH was added to AP4E1.
Source Expert Review Green was added to AP4E1. Mode of inheritance for gene AP4E1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to AP4E1.
gene: AP4E1 was added gene: AP4E1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: AP4E1 was set to