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Hereditary neuropathy NOT PMP22 copy number

Gene: SPAST

Amber List (moderate evidence)

SPAST (spastin)
EnsemblGeneIds (GRCh38): ENSG00000021574
EnsemblGeneIds (GRCh37): ENSG00000021574
OMIM: 604277, Gene2Phenotype
SPAST is in 9 panels

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - HSP with neuropathy / Broader phenotype (HSP)
Created: 7 Dec 2019, 12:03 a.m. | Last Modified: 7 Dec 2019, 12:03 a.m.
Panel Version: 0.86
This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Created: 6 Dec 2019, 10:25 p.m. | Last Modified: 6 Dec 2019, 10:25 p.m.
Panel Version: 0.84
Review and rating uploaded from file (Curation_Template_GMS_Neuro_AR_20190521.xlsx) submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group.
Created: 11 Jun 2019, 1:40 p.m.
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, 5 p.m.

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

Red List (low evidence)

Agree, wasnt aware this also caused neuropathy
Created: 29 Apr 2019, 9:20 a.m.

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to expert review, and is green on the HSP (hereditary spastic paraplegia) panel.
Created: 4 May 2016, 9:07 a.m.

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Peripheral neuropathy in > unrelated individuals in above case series
Created: 4 Jun 2019, 1:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
spasticity

Publications

Mary Reilly (Institute of Neurology)

HSP
Created: 8 Dec 2015, 3:05 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
  • Emory Genetics Laboratory
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Hereditary Neuropathies
  • Spastic paraplegia 4, autosomal dominant
  • Spasticity
OMIM
604277
Clinvar variants
Variants in SPAST
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to SPAST. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: SPAST was added gene: SPAST was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Emory Genetics Laboratory,UKGTN,Expert Review Green Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPAST were set to 28572275 Phenotypes for gene: SPAST were set to Hereditary Neuropathies; Spastic paraplegia 4, autosomal dominant; Spasticity