Optic neuropathy

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

4 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from amber to green. There are >3 unrelated cases with different variants reported. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.
Created: 22 Mar 2019, 3:14 p.m.

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259

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

Ellen Thomas (Genomics England Curator)

Comment on list classification: OA is a very minor part in only 1 of the OMIM families. Neurological presentation predominates here so unlikely to be recruited under OA, and risk of inappropriate unrelated predictive information being generated.
Created: 11 Sep 2016, 9:18 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Spastic paraplegia 7, autosomal recessive includes optic atrophy, and is green on the version 1.0 HSP panel.
Created: 7 Sep 2016, 9:47 a.m.

History Filter Activity

22 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: spg7 has been classified as Green List (High Evidence).

22 Mar 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: SPG7 were set to

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source London North GLH was added to SPG7.

13 Sep 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.

11 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Sep 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

8 Jun 2015, Gel status: 0

Added New Source

Augusto Rendon (Genomics England)

SPG7 was added to Inherited optic neuropathiespanel. Sources: Expert