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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 8:24 a.m.

Created: 3 May 2019, 8:24 a.m.

Panel version: 1.203

Chris Buxton (North Bristol NHS Trust)

I don't know

Hirst et al 2016 (4 families) since PanelApp review (2016)
Created: 26 Nov 2018, 4:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

27606357

Created: 26 Nov 2018, 4:28 p.m.

Panel version: 1.71

emma baple (Genomics England Curator)

Red List (low evidence)

Only one family described to date, further evidence required.
Created: 7 Feb 2016, 6:53 p.m.

Created: 7 Feb 2016, 6:53 p.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Spastic paraplegia 48, autosomal recessive, OMIM:613647

OMIM

613653

Clinvar variants

Variants in AP5Z1

Penetrance

Complete

Publications

Slabicki et al. (2010) i

Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive ; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2