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Hereditary spastic paraplegia

Gene: SPG23

No list
SPG23 (spastic paraplegia 23 (autosomal recessive))
SPG23 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, 2:25 p.m.
Created: 15 Aug 2017, 2:25 p.m.

Panel version: 1.20

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 9 Jan 2017, 4:26 p.m.
Created: 9 Jan 2017, 4:26 p.m.

Panel version: 1.1

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence
Created: 10 May 2016, 1:55 p.m.
Created: 10 May 2016, 1:55 p.m.

Panel version: 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
Tags
locus-type-phenotype-only ensembl_ids_known_missing curated_removed
Clinvar variants
Variants in SPG23
Penetrance
Complete
Publications
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: SPG23.

8 Jul 2020, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag ensembl_ids_known_missing tag was added to gene: SPG23.

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 SPG23 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SPG23 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SPG23 was added to Hereditary spastic paraplegiapanel. Sources: Expert list