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  2. Childhood onset hereditary spastic paraplegia
  3. AP5Z1

Childhood onset hereditary spastic paraplegia

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

5 reviews

Arina Puzriakova (Genomics England Curator)

Although generally an adult-onset condition, rare childhood-onset cases have also been reported. Additionally given the previously established consensus from the GMS Specialist Group, the Green rating will be maintained on this panel.
Created: 22 Nov 2021, 3:43 p.m. | Last Modified: 22 Nov 2021, 3:43 p.m.
Panel Version: 2.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive, OMIM:613647

Publications

Created: 22 Nov 2021, 3:43 p.m.
Last Modified: 22 Nov 2021, 3:43 p.m.
Panel version: 2.100

Zornitza Stark (Australian Genomics)

I don't know

Onset is generally in adulthood though at least one individual with childhood onset reported.
Created: 17 Sep 2020, 8:59 a.m. | Last Modified: 17 Sep 2020, 8:59 a.m.
Panel Version: 2.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive, MIM# 613647

Publications

Created: 17 Sep 2020, 8:59 a.m.
Last Modified: 17 Sep 2020, 8:59 a.m.
Panel version: 2.15

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Adult and childhood onset.
Created: 3 May 2019, 4:21 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, 4:21 p.m.

Panel version: 1.73

Louise Daugherty (Genomics England Curator)

I don't know

Amber gene with Green 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, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.
Rated Red on Hereditary spastic paraplegia panel 1.198.

Amber rating : Hirst et al 2016 (4 families) since PanelApp review (2016)
Chris Buxton (North Bristol NHS Trust), 26 Nov 2018

Red rating: Only one family described to date, further evidence required.
emma baple (Genomics England Curator), 7 Feb 2016
Created: 2 May 2019, 3:41 p.m.
Created: 28 Apr 2019, 5:14 p.m.

Panel version: 1.166

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

Green List (high evidence)

Several unrelated cases with adult onset SPG48
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 48, autosomal recessive 613647, AR

Created: 28 Apr 2019, 4:16 p.m.

Panel version: 1.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 48, autosomal recessive, OMIM:613647
OMIM
613653
Clinvar variants
Variants in AP5Z1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Nov 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: AP5Z1 were set to Slabicki et al. (2010); 20613862; 24833714; 27606357

22 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

22 Nov 2021, Gel status: 3

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

21 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i

13 May 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to AP5Z1.

2 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AP5Z1.

28 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to AP5Z1.

3 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1

28 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive; Spastic Paraplegia, Recessive