Hereditary spastic paraplegia - adult onset

Gene: SLC1A4

Green List (high evidence)

SLC1A4 (solute carrier family 1 member 4)
EnsemblGeneIds (GRCh38): ENSG00000115902
EnsemblGeneIds (GRCh37): ENSG00000115902
OMIM: 600229, Gene2Phenotype
SLC1A4 is in 8 panels

5 reviews

Eleanor Williams (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Childhood onset.
Created: 22 Sep 2020, 5:18 a.m. | Last Modified: 22 Sep 2020, 5:18 a.m.
Panel Version: 1.7

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. No reported cases of adult onset.
Created: 10 May 2019, 9:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, OMIM:616657
Tags
Q2_21_phenotype
OMIM
600229
Clinvar variants
Variants in SLC1A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 May 2021, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: slc1a4 has been classified as Green List (High Evidence).

28 May 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

28 May 2021, Gel status: 3

Removed Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_expert_review was removed from gene: SLC1A4. Tag Q2_21_phenotype tag was added to gene: SLC1A4.

26 May 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: SLC1A4.

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC1A4 were set to

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SLC1A4.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SLC1A4.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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