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Childhood onset hereditary spastic paraplegia v1.166 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Amber gene with Green and Red GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Red rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Childhood onset hereditary spastic paraplegia v1.165 SLC33A1 Louise Daugherty Source Expert Review Red was added to SLC33A1.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.164 SLC33A1 Louise Daugherty Deleted their comment
Childhood onset hereditary spastic paraplegia v1.108 SLC33A1 Louise Daugherty Publications for gene: SLC33A1 were set to Lin et al. (2008)
Childhood onset hereditary spastic paraplegia v1.75 SLC33A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.74 SLC33A1 Nick Beauchamp reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: None; Publications: 19061983, 25402622; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v1.74 SLC33A1 Louise Daugherty commented on gene: SLC33A1: 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 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v1.73 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Amber rating on Hereditary spastic paraplegia panel 1.198

helen kingston (CMFT NHS Foundation Trust, Manchester)
5 Nov 2017 Submitted Green review.

Comment when marking as ready: Very clear association of autosomal recessive mutations with congenital cataracts, hearing loss, and neurodegeneration. Limited evidence currently for HSP
emma baple (Genomics England Curator), 10 May 2016

A mutation in this gene has been described in one chinese family affected by pure HSP, showing autosomal dominant inheritance with reduced penetrance. A subsequent screen of 220 pure HSP patients of mostly caucasian origin failed to identify mutations with this gene.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square), 13 Jan 2016. Submitted Amber rating
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v1.67 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v1.48 SLC33A1 Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset hereditary spastic paraplegia v1.31 SLC33A1 Louise Daugherty Phenotypes for gene: SLC33A1 were changed from Spastic paraplegia 42, autosomal dominant, to Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR; Spastic paraplegia 42, autosomal dominant
Childhood onset hereditary spastic paraplegia v1.30 SLC33A1 Louise Daugherty Mode of inheritance for gene: SLC33A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.29 SLC33A1 Louise Daugherty Classified gene: SLC33A1 as Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.29 SLC33A1 Louise Daugherty Gene: slc33a1 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.6 SLC33A1 James Polke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration, 614482, AR, Spastic paraplegia 42, autosomal dominant 612539, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v1.5 SLC33A1 Louise Daugherty Source NHS GMS was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.4 SLC33A1 Louise Daugherty Source London North GLH was added to SLC33A1.
Childhood onset hereditary spastic paraplegia v1.3 SLC33A1 Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant, for gene: SLC33A1
Childhood onset hereditary spastic paraplegia v0.6 SLC33A1 Sarah Leigh gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Red,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to Lin et al. (2008)
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,