Early-onset Parkinson disease
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Individuals with hereditary spastic paraplegia (HSP) may present with Parkinsonism. In a cohort of 97 index cases with complex hereditary spastic paraplegia (HSP), SPG11 defects were found in 30 families. Of this SPG11 cohort, Parkinsonian features were present in 5 of 30 cases (PMID: 27217339).
A 16-year-old Italian patient with bilateral symmetric parkinsonism. Genetic analysis detected two novel mutations, a c.3664insT variant in compound heterozygosity with a c.6331insG mutation, in SPG11 (PMID: 21381113).
A consanguineous Japanese family was identified that contained three patients with HSP-related symptoms. A novel pathogenic nonsense variant, c.4544G > A, p.W1515* was identified in the SPG11 gene (PMID: 35036589).Created: 7 Sep 2023, 5:14 a.m. | Last Modified: 7 Sep 2023, 5:14 a.m.
Panel Version: 0.264
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amyotrophic lateral sclerosis 5, juvenile (MIM# 602099); Charcot-Marie-Tooth disease, axonal, type 2X (MIM# 616668); Spastic paraplegia 11, autosomal recessive (MIM# 604360)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- hereditary spastic paraplegia 11 MONDO:0011445
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Early-onset Parkinson disease
- Motor Neurone Disease
- Regression
- Incidentalome
- Early-onset Dementia
- Hereditary Spastic Paraplegia - adult onset
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: spg11 has been classified as Green List (High Evidence).
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: SPG11 were set to
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SPG11 were changed from hereditary spastic paraplegia 11 MONDO:0011445 to hereditary spastic paraplegia 11 MONDO:0011445
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SPG11 were changed from hereditary spastic paraplegia 11 MONDO:0011445 to hereditary spastic paraplegia 11 MONDO:0011445
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SPG11 were changed from to hereditary spastic paraplegia 11 MONDO:0011445
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SPG11 was added gene: SPG11 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SPG11 was set to Unknown