Hereditary spastic paraplegia

Gene: SPG34

No list

SPG34 (spastic paraplegia 34 (autosomal dominant))
OMIM: 300750, Gene2Phenotype
SPG34 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: demoted to Grey, this is a phenotype locus type symbol
Created: 15 Aug 2017, 2:23 p.m.

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 9 Jan 2017, 4:31 p.m.

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence
Created: 10 May 2016, 2:01 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • Expert list
Tags
locus-type-phenotype-only
OMIM
300750
Clinvar variants
Variants in SPG34
Penetrance
Complete
Publications
  • Macedo-Souza LI (2008)
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 0

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been removed from the panel.

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG34 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG34 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG34 was added to Hereditary spastic paraplegiapanel. Sources: Expert list