Activity

Filter

Cancel
Date Panel Item Activity
23 actions
Childhood onset hereditary spastic paraplegia v2.101 AP5Z1 Arina Puzriakova Publications for gene: AP5Z1 were set to Slabicki et al. (2010); 20613862; 24833714; 27606357
Childhood onset hereditary spastic paraplegia v2.100 AP5Z1 Arina Puzriakova reviewed gene: AP5Z1: Rating: ; Mode of pathogenicity: None; Publications: 24833714, 27606357, 33543803; Phenotypes: Spastic paraplegia 48, autosomal recessive, OMIM:613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v2.100 AP5Z1 Arina Puzriakova Phenotypes for gene: AP5Z1 were changed from Spastic paraplegia 48, autosomal recessive, OMIM:613647 to Spastic paraplegia 48, autosomal recessive, OMIM:613647
Childhood onset hereditary spastic paraplegia v2.99 AP5Z1 Arina Puzriakova Phenotypes for gene: AP5Z1 were changed from Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive to Spastic paraplegia 48, autosomal recessive, OMIM:613647
Childhood onset hereditary spastic paraplegia v2.15 AP5Z1 Zornitza Stark reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26085577; Phenotypes: Spastic paraplegia 48, autosomal recessive, MIM# 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.166 AP5Z1 Louise Daugherty commented on gene: AP5Z1: 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.
Childhood onset hereditary spastic paraplegia v1.165 AP5Z1 Louise Daugherty Source Expert Review Green was added to AP5Z1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.150 AP5Z1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.150 AP5Z1 Louise Daugherty Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Childhood onset hereditary spastic paraplegia v1.75 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: 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.
Childhood onset hereditary spastic paraplegia v1.73 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20613862, 24833714, 27606357; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty commented on gene: AP5Z1: 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
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.51 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.48 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.10 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.10 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.6 AP5Z1 James Polke reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive 613647, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.4 AP5Z1 Louise Daugherty Source London North GLH was added to AP5Z1.
Childhood onset hereditary spastic paraplegia v1.3 AP5Z1 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1
Childhood onset hereditary spastic paraplegia v0.6 AP5Z1 Sarah Leigh 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