1. Panels
  2. Hereditary neuropathy or pain disorder
  3. AP5Z1
Genes in panel
Prev Next

Hereditary neuropathy or pain disorder

Gene: AP5Z1

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:02 p.m. | Last Modified: 24 Feb 2025, 5:02 p.m.
Panel Version: 6.148
PMID: 26085577 reports studies on three independent skin fibroblast lines, derived from patients with AP5Z1 terminating variants. The patients had a range of features, including spastic paraplegia accompanied by neuropathy, parkinsonism and/or cognitive impairment (PMID: 20613862: 24833714). These studies revealed how the AP5Z1 variants were adversely affecting the normal strucutre and function of the cells.
Created: 4 Nov 2024, 11:26 a.m. | Last Modified: 4 Nov 2024, 11:26 a.m.
Panel Version: 6.20

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive, OMIM:613647

Publications

Created: 4 Nov 2024, 11:26 a.m.
Last Modified: 4 Nov 2024, 11:26 a.m.
Panel version: 6.148

Alexander Rossor (UCL Institute of Neurology)

I don't know

only a single patient with neuropathy
Sources: Expert list
Created: 15 Oct 2024, 10:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spasticity; ataxia; retinopathy; neuropathy; parkinsonism

Publications

Created: 15 Oct 2024, 10:07 p.m.

Panel version: 5.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, OMIM:613647
  • hereditary spastic paraplegia 48, MONDO:0013342
OMIM
613653
Clinvar variants
Variants in AP5Z1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: AP5Z1. Tag Q3_24_NHS_review was removed from gene: AP5Z1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to AP5Z1. Source Expert Review Green was added to AP5Z1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Nov 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: AP5Z1. Tag Q3_24_NHS_review tag was added to gene: AP5Z1.

22 Oct 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: AP5Z1 were changed from spasticity; ataxia; retinopathy; neuropathy; parkinsonism to Spastic paraplegia 48, autosomal recessive, OMIM:613647; hereditary spastic paraplegia 48, MONDO:0013342

22 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ap5z1 has been classified as Amber List (Moderate Evidence).

15 Oct 2024, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Alexander Rossor (UCL Institute of Neurology)

gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 26085577 Phenotypes for gene: AP5Z1 were set to spasticity; ataxia; retinopathy; neuropathy; parkinsonism Penetrance for gene: AP5Z1 were set to Complete Review for gene: AP5Z1 was set to AMBER