Adult onset hereditary spastic paraplegia
Gene: SLC1A4The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Comment on list classification: Leaving the rating as green, but with a recommendation for review of this gene at the next GMS review as all cases have onset in childhood and this is an adult onset panel.Created: 28 May 2021, 8:15 a.m. | Last Modified: 28 May 2021, 8:15 a.m.
Panel Version: 1.23
All cases to date have a childhood presentation - see review of cases on the Severe microcephaly panel https://panelapp.genomicsengland.co.uk/panels/162/gene/SLC1A4/Created: 26 May 2021, 4:13 p.m. | Last Modified: 26 May 2021, 4:13 p.m.
Panel Version: 1.21
Childhood onset.Created: 22 Sep 2020, 5:18 a.m. | Last Modified: 22 Sep 2020, 5:18 a.m.
Panel Version: 1.7
Green gene with Amber 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, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
Victoria: delayed psychomotor development with lack of speech and inability to walk, postnatal progressive microcephaly, and spasticity. Publications in unrelated families,Created: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Tag Q2_21_phenotype was removed from gene: SLC1A4.
Source Expert Review Amber was added to SLC1A4. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Gene: slc1a4 has been classified as Green List (High Evidence).
Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657
Tag Q2_21_expert_review was removed from gene: SLC1A4. Tag Q2_21_phenotype tag was added to gene: SLC1A4.
Tag Q2_21_expert_review tag was added to gene: SLC1A4.
Publications for gene: SLC1A4 were set to
Source Yorkshire and North East GLH was added to SLC1A4.
Source Expert Review Green was added to SLC1A4. Mode of inheritance for gene SLC1A4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to SLC1A4.
gene: SLC1A4 was added gene: SLC1A4 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC1A4 was set to