Adult onset neurodegenerative disorder

Gene: AP5Z1

Red List (low evidence)

Spastic paraplegia phenotype

Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.

Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

I don't know

Prior to GLH sign off for this panel, AP5Z1 was discussed further by the specialist test group. It was agreed by all GLHs (Wessex and West Midlands GLH, Yorkshire and North East GLH, London North GLH) to keep this gene rated as Amber because there can be Parkinsonism and cognitive impairment, but not Green as not primary phenotype.

Created: 28 Nov 2019, 1:19 p.m. | Last Modified: 28 Nov 2019, 1:19 p.m.

Panel Version: 1.109

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber

Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.

Panel Version: 1.106

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.

Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.

Created: 23 Apr 2019, 3:05 p.m.

Green List (high evidence)

4 SPG families with hom/comp het vars (27606357); 2 SPG families with hom/comp het (24833714); 1 SPG family with homozygous var (20613862).

Created: 23 Apr 2019, 2:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Variants in this GENE are reported as part of current diagnostic practice