Retinal disorders
Gene: SPG7EnsemblGeneIds (GRCh38): ENSG00000197912
EnsemblGeneIds (GRCh37): ENSG00000197912
OMIM: 602783, Gene2Phenotype
SPG7 is in 20 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Associated with OMIM: 607259 and as definitive Gen2Phen gene for the same condition. Optic atrophy was reported in three patients from two families (PMID:9635427), but it was not evident in the family reported in PMID:17646629. 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 pseudoautosomalCreated: 11 Apr 2023, 1:47 p.m. | Last Modified: 11 Apr 2023, 1:47 p.m.
Panel Version: 4.6
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
optic atrophy associated?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Spastic paraplegia 7, autosomal recessive, OMIM:607259
- hereditary spastic paraplegia 7, MONDO:0011803
- OMIM
- 602783
- Clinvar variants
- Variants in SPG7
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Mitochondrial disorders
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: spg7 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SPG7 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to SPG7.
Added New Source
Ellen McDonagh (Genomics England Curator)SPG7 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)SPG7 was created by ellenmcdonagh