Cerebral Palsy
Gene: SPG11
SPG11 (SPG11, spatacsin vesicle trafficking associated)
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Intellectual disability and spasticity, reported in CP cohort.
Recent review of >300 individuals with SPG11-related disease. Mean age at onset was 13.10 ± 3.65 years, with initial symptoms like gait disturbance (107/195, 54.87%) and intellectual disability (47/195, 24.10%). Cognitive decline (228/270, 84.44%) was the most common complex manifestation stepped by dysarthria (134/195, 68.72%), neuropathy (112/177, 63.28%), amyatrophy, sphincter disturbance (60/130, 46.15%) and ataxia (90/194, 46.39%).
Sources: Expert listCreated: 25 Sep 2021, 2:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive, MIM# 604360
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spastic paraplegia 11, autosomal recessive, MIM# 604360
- 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
25 Sep 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spg11 has been classified as Green List (High Evidence).
25 Sep 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spg11 has been classified as Green List (High Evidence).
25 Sep 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SPG11 was added gene: SPG11 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 34183250; 33581793 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM# 604360 Review for gene: SPG11 was set to GREEN