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Hereditary spastic paraplegia

Gene: SPG16

No list
SPG16 (spastic paraplegia 16 (complicated, X-linked recessive))
OMIM: 300266, Gene2Phenotype
SPG16 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: 16 Aug 2017, 10:39 a.m.
Created: 16 Aug 2017, 10:39 a.m.

Panel version: 1.26

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 9 Jan 2017, 4:24 p.m.
Created: 9 Jan 2017, 4:24 p.m.

Panel version: 1.1

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence
Created: 10 May 2016, 1:54 p.m.
Created: 10 May 2016, 1:54 p.m.

Panel version: 0.36

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 ensembl_ids_known_missing curated_removed
OMIM
300266
Clinvar variants
Variants in SPG16
Penetrance
Complete
Publications
  • Tamagaki et al. (2000)
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: SPG16.

8 Jul 2020, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag ensembl_ids_known_missing tag was added to gene: SPG16.

16 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 SPG16 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 SPG16 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)

SPG16 was added to Hereditary spastic paraplegiapanel. Sources: Expert list