Hereditary spastic paraplegia - childhood onset

Gene: SPART

Green List (high evidence)

SPART (spartin)
EnsemblGeneIds (GRCh38): ENSG00000133104
EnsemblGeneIds (GRCh37): ENSG00000133104
OMIM: 607111, Gene2Phenotype
SPART is in 9 panels

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood onset.
Created: 10 May 2019, 9:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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)

victoria: Several publications - lower limb spasticity and hyperreflexia, short stature, dysarthria, and delayed motor and cognitive development.In Sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 20, autosomal recessive, Troyer syndrome

Arianna Tucci (Genomics England Curator)

Onset in childhood
Created: 25 Feb 2019, 10:55 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • Troyer syndrome, 275900
  • Spastic paraplegia 20
OMIM
607111
Clinvar variants
Variants in SPART
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SPART were changed from Troyer syndrome, 275900 to Troyer syndrome, 275900; Spastic paraplegia 20

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SPART were set to 12134148

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SPART.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SPART.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SPART.

3 Apr 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Troyer syndrome, 275900 for gene: SPART

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset at birth

28 Jan 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SPART were set to Patel et al. (2002

28 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SPART were changed from to Troyer syndrome, 275900

19 Dec 2018, Gel status: 4

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

Sarah Leigh (Genomics England Curator)

gene: SPART was added gene: SPART was added to Hereditary spastic paraplegia - childhood onset. Sources: UKGTN,Expert list,Expert Review Green Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPART were set to Patel et al. (2002