Genes in panel

Ataxia and cerebellar anomalies - narrow panel

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 21 panels

2 reviews

Ivone Leong (Genomics England Curator)

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype.

PMID:33774748. Age of onset reported ranged from 12-61 yo (mean age = 39.1). 25 unrelated families of Irish descent.
PMID:32161564. Age of onset 25 - 45 yo.
PMID:31068484. Age of onset 35.5 +/- 14.3 years (mean age = 50.4). 241 patients were part of the study.
PMID:23065789. Age of onset 10 - 45 yo. 137 patients were part of the study.

As the age of onset is quite a wide range this gene will remain Green to ensure edge cases are identified. This gene has been tagged for GMS expert review on whether this gene's rating needs to be changed.
Created: 4 May 2021, 1:29 p.m. | Last Modified: 4 May 2021, 1:29 p.m.
Panel Version: 2.149
Comment on phenotypes: Previous phenotypes:
Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Created: 19 Apr 2021, 11:53 a.m. | Last Modified: 19 Apr 2021, 11:53 a.m.
Panel Version: 2.114

Publications

Zornitza Stark (Australian Genomics)

I don't know

The onset of the ataxia is generally in adulthood.
Created: 13 Sep 2020, 6:47 a.m. | Last Modified: 13 Sep 2020, 6:47 a.m.
Panel Version: 2.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 7, autosomal recessive, MIM# 607259

Publications

History Filter Activity

4 May 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_expert_review tag was added to gene: SPG7.

19 Apr 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia to Spastic paraplegia 7, autosomal recessive, OMIM:607259

19 Apr 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SPG7 were set to PMID: 25681447

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SPG7 was added gene: SPG7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to PMID: 25681447 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia