Early-onset Dementia
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dementia or cognitive decline has been reported in at least 3 cases/families with biallelic mutations. Spg11 knockout mice have cognitive deficits.Created: 6 Feb 2020, 6:24 a.m. | Last Modified: 6 Feb 2020, 6:24 a.m.
Panel Version: 0.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Spastic paraplegia 11, autosomal recessive MIM#604360
- Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668
- Amyotrophic lateral sclerosis 5, juvenile MIM#602099
- OMIM
- 610844
- Clinvar variants
- Variants in SPG11
- Penetrance
- None
- 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
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: SPG11 were changed from to Spastic paraplegia 11, autosomal recessive MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668; Amyotrophic lateral sclerosis 5, juvenile MIM#602099
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: SPG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Dementia_MGHA_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