Adult onset hereditary spastic paraplegia
Gene: AP5Z1

AP5Z1 (adaptor related protein complex 5 zeta 1 subunit)
EnsemblGeneIds (GRCh38): ENSG00000242802
EnsemblGeneIds (GRCh37): ENSG00000242802
OMIM: 613653, Gene2Phenotype
AP5Z1 is in 7 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Adult and childhood onset.
Created: 3 May 2019, 4:23 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, 4:23 p.m.

Panel version: 0.52

Chris Buxton (North Bristol NHS Trust)

Green List (high evidence)

Will include in local HSP panel 3 reports. Hirst et al 2016 (4 families) since PanelApp review (2016)
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic Paraplegia, Recessive ; Spastic paraplegia 48, autosomal recessive

Publications

27606357

Created: 27 Apr 2019, 4:17 p.m.

Panel version: 0.29

Louise Daugherty (Genomics England Curator)

I don't know

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.

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

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

Panel version: 0.53

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

Green List (high evidence)

Several unrelated cases with adult onset SPG48
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive, 613647

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

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Yorkshire and North East GLH
South West GLH
NHS GMS
London North GLH

Phenotypes

Spastic Paraplegia, Recessive
Spastic paraplegia 48, autosomal recessive, 613647
Spastic paraplegia 48, autosomal recessive

OMIM

613653

Clinvar variants

Variants in AP5Z1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Oct 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ap5z1 has been classified as Green List (High Evidence).

13 May 2019, Gel status: 4