Hereditary spastic paraplegia - adult onset

Gene: SLC33A1

Red List (low evidence)

SLC33A1 (solute carrier family 33 member 1)
EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 12 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Adult and childhood onset; single family reported. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 9:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

Limited genotype-phenotype correlation
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia 42, autosomal dominant

Publications

  • Lin et al. (2008)

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with 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.
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.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

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

Green List (high evidence)

several unrelated families published with CCHLND, affected members of a large Chinese family with pure autosomal dominant spastic paraplegia-42 . In sheffield HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Phenotypes
Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD
  • Spastic paraplegia 42, autosomal dominant
OMIM
603690
Clinvar variants
Variants in SLC33A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 May 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to SLC33A1. Rating Changed from Green List (high evidence) to Red List (low evidence)

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SLC33A1 were set to Lin et al. (2008)

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SLC33A1.

27 Apr 2019, Gel status: 4

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SLC33A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 42, autosomal dominant for gene: SLC33A1 Publications for gene SLC33A1 were changed from to Lin et al. (2008)

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SLC33A1.

25 Apr 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC33A1. Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD for gene: SLC33A1 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 SLC33A1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC33A1 was added gene: SLC33A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: SLC33A1 was set to