Hereditary spastic paraplegia - childhood onset

Gene: SPAST

Green List (high evidence)

SPAST (spastin)
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 8 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Adult and childhood onset.
Created: 10 May 2019, 9:58 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 9 May 2019, 4:54 p.m.

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

Green List (high evidence)

In current HSP panel and In Sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

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

Phenotypes
Spastic paraplegia 4, autosomal dominant, 182601

Arianna Tucci (Genomics England Curator)

I don't know

Onset is mostly in early adulthood - but it is variable and has been described from infancy through senescence
Created: 25 Feb 2019, 10:59 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Spastic paraplegia 4, autosomal dominant, 182601
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SPAST were set to Hazan et al (1999)

13 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SPAST were changed from Spastic paraplegia 4, autosomal dominant to Spastic paraplegia 4, autosomal dominant, 182601

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SPAST.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SPAST.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SPAST.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia 4, autosomal dominant for gene: SPAST

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset at birth

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: SPAST was added gene: SPAST was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to Hazan et al (1999) Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant