Hereditary ataxia

Gene: SPG7

Green List (high evidence)

SPG7 (SPG7, paraplegin matrix AAA peptidase subunit)
EnsemblGeneIds (GRCh38): ENSG00000197912
EnsemblGeneIds (GRCh37): ENSG00000197912
OMIM: 602783, Gene2Phenotype
SPG7 is in 20 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Good evidence
Created: 11 Jul 2016, 8:50 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Loads of evidence in literature. Positives in our cohort
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Nov 2015, Gel status: 0

Added New Source

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

SPG7 was added to Hereditary ataxiapanel. Sources: Expert Review

24 Nov 2015, Gel status: 0

Created

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

SPG7 was created by jonathan.williams