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Adult onset hereditary spastic paraplegia

Gene: AP4E1

Amber List (moderate evidence)
AP4E1 (adaptor related protein complex 4 epsilon 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000081014
EnsemblGeneIds (GRCh37): ENSG00000081014
OMIM: 607244, Gene2Phenotype
AP4E1 is in 8 panels

7 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

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, 4:57 p.m.
Panel Version: 4.3
Created: 4 May 2024, 4:56 p.m.
Last Modified: 4 May 2024, 4:57 p.m.
Panel version: 4.3

Sarah Leigh (Genomics England Curator)

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
Created: 15 Mar 2022, 3:55 p.m.
Last Modified: 15 Mar 2022, 3:55 p.m.
Panel version: 1.95

Arina Puzriakova (Genomics England Curator)

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
Created: 5 Jan 2021, 5:43 p.m.
Last Modified: 5 Jan 2021, 5:43 p.m.
Panel version: 1.15

Zornitza Stark (Australian Genomics)

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
Created: 20 Sep 2020, 7:56 a.m.
Last Modified: 20 Sep 2020, 7:56 a.m.
Panel version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

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

Created: 3 May 2019, 4:11 p.m.

Panel version: 0.52

Louise Daugherty (Genomics England Curator)

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.
Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.148

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria-childhood onset. Several publications. In Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 51, autosomal recessive, 613744

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

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia 51, autosomal recessive, OMIM:613744
  • Hereditary spastic paraplegia 51, MONDO:0013401
OMIM
607244
Clinvar variants
Variants in AP4E1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 2

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag for-review was removed from gene: AP4E1. Tag to_be_confirmed_NHSE was removed from gene: AP4E1.

4 May 2024, Gel status: 2

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Amber was added to AP4E1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 Mar 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag to_be_confirmed_NHSE tag was added to gene: AP4E1.

5 Jan 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: AP4E1.

5 Jan 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AP4E1 were set to 21620353; 23472171

5 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: AP4E1 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to AP4E1.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AP4E1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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