Retinal disorders
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 17 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: OMIM phenotype accessed on 29 August 2025.Created: 29 Aug 2025, 11:04 a.m. | Last Modified: 29 Aug 2025, 11:04 a.m.
Panel Version: 8.22
Ida Ertmanska (Genomics England Curator)
As reviewed by Siying Lin, there are at least eight different variants (splice-altering and nonsense) reported in seven unrelated patients with Kjellin syndrome - a form of complex hereditary spastic paraplegia with late-onset retinal degeneration. The retinal phenotype tends present around 20-30 years of age, following the onset of spasticity.
There is sufficient evidence available for the association of biallelic SPG11 variants with retinal disorders, which fits into the scope of this panel. Hence, this gene can be promoted to green rating in the next GMS update.Created: 29 Aug 2025, 10:17 a.m. | Last Modified: 29 Aug 2025, 10:17 a.m.
Panel Version: 8.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, OMIM:604360; retinal disorder, MONDO:0005283
Publications
Siying Lin (Moorfields Eye Hospital)
Kjellin syndrome is a form of complex hereditary spastic paraplegia, associated with 2 genes, SPG11 and SPG15/ZFYVE26. Patients have a consistent retinal phenotype with flecked maculopathy and associated autofluorescence changes. ZFYVE26 is already listed as a green gene on the retinal panel.
Sources: LiteratureCreated: 10 Feb 2025, 7:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy; spastic paraplegia
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Spastic paraplegia 11, autosomal recessive, OMIM:604360
- retinal disorder, MONDO:0005283
- Tags
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Paediatric motor neuronopathies
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Amyotrophic lateral sclerosis/motor neuron disease
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: spg11 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SPG11 were changed from Retinal dystrophy; spastic paraplegia to Spastic paraplegia 11, autosomal recessive, OMIM:604360; retinal disorder, MONDO:0005283
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_25_promote_green tag was added to gene: SPG11. Tag Q3_25_NHS_review tag was added to gene: SPG11.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Siying Lin (Moorfields Eye Hospital)gene: SPG11 was added gene: SPG11 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to PMID: 19194956, 36343909, 38613257,21035867 Phenotypes for gene: SPG11 were set to Retinal dystrophy; spastic paraplegia Mode of pathogenicity for gene: SPG11 was set to Other Review for gene: SPG11 was set to GREEN