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Hereditary spastic paraplegia, childhood onset v1.166 AMPD2 Louise Daugherty commented on gene: AMPD2: Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Amber rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Hereditary spastic paraplegia, childhood onset v1.156 AMPD2 Louise Daugherty Phenotypes for gene: AMPD2 were changed from Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) to ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR
Hereditary spastic paraplegia, childhood onset v1.155 AMPD2 Louise Daugherty Publications for gene: AMPD2 were set to Novarino et al. (2014)
Hereditary spastic paraplegia, childhood onset v1.154 AMPD2 Louise Daugherty Deleted their comment
Hereditary spastic paraplegia, childhood onset v1.75 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Hereditary spastic paraplegia, childhood onset v1.74 AMPD2 Louise Daugherty commented on gene: AMPD2: 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.
Hereditary spastic paraplegia, childhood onset v1.73 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24482476, 27159321; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hereditary spastic paraplegia, childhood onset v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Changed rating: AMBER
Hereditary spastic paraplegia, childhood onset v1.50 AMPD2 Louise Daugherty edited their review of gene: AMPD2: Added comment: Red rating on Hereditary spastic paraplegia panel 1.198

nonsense variant in single family in exome study. Low evidence
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018

Comment when marking as ready: Single family only - more evidence required
emma baple (Genomics England Curator), 8 Feb 2016; Changed rating: RED
Hereditary spastic paraplegia, childhood onset v1.48 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary spastic paraplegia, childhood onset v1.9 AMPD2 Louise Daugherty Classified gene: AMPD2 as Amber List (moderate evidence)
Hereditary spastic paraplegia, childhood onset v1.9 AMPD2 Louise Daugherty Gene: ampd2 has been classified as Amber List (Moderate Evidence).
Hereditary spastic paraplegia, childhood onset v1.6 AMPD2 James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia, childhood onset v1.5 AMPD2 Louise Daugherty Source NHS GMS was added to AMPD2.
Hereditary spastic paraplegia, childhood onset v1.4 AMPD2 Louise Daugherty Source London North GLH was added to AMPD2.
Hereditary spastic paraplegia, childhood onset v1.3 AMPD2 Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2
Hereditary spastic paraplegia, childhood onset v0.6 AMPD2 Sarah Leigh gene: AMPD2 was added
gene: AMPD2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Novarino et al. (2014)
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia?