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Intellectual disability

Gene: SPG7

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

4 reviews

Sarah Leigh (Genomics England Curator)

Associated with OMIM:607259 and as definitive Gen2Phen gene for the same condition, which is adult onset, with memory deficits, cognitive defects in executive function and attention. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomal.
Created: 11 Apr 2023, 12:51 p.m. | Last Modified: 11 Apr 2023, 12:51 p.m.
Panel Version: 5.19
Created: 11 Apr 2023, 12:51 p.m.
Last Modified: 11 Apr 2023, 12:51 p.m.
Panel version: 5.19

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Updated MOI from 'biallelic' to 'both biallelic and monoallelic': although SPG7 has classically been considered to show an AR mode of inheritance, there is also evidence for AD transmission in some families (PMID:22571692). Rated red after advice from Arianna Tucci: primary phenotype is spastic paraplegia so not relevant to ID panel.
Created: 31 Oct 2017, 9:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Created: 31 Oct 2017, 9:24 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_gilissen_2014_known;in_omim_20150205_movement;in_movement_disorder_list . Main mutation mechanism : NA
Created: 27 Jul 2017, 8:33 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : gilissen_2014_known; omim_20150205_movement; manju_list; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • 24896178
  • omim.org
  • Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 10:55 p.m.

Panel version: 1.354

Louise Daugherty (Genomics England Curator)

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 2:05 p.m.
Created: 20 Jul 2017, 2:05 p.m.

Panel version: 1.239

History Filter Activity

11 Apr 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SPG7 were set to 22571692

11 Apr 2023, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

11 Apr 2023, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, 607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803

11 Feb 2021, Gel status: 1

Clear Sources

Arina Puzriakova (Genomics England Curator)

Source: Expert Review Amber was removed from gene: SPG7

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to SPG7. Panel: Intellectual disability Model of inheritance for gene SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene SPG7 was set to ['22571692']

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SPG7 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SPG7 was created by BRIDGE