Leukodystrophy - adult onset
Gene: SPG11EnsemblGeneIds (GRCh38): ENSG00000104133
EnsemblGeneIds (GRCh37): ENSG00000104133
OMIM: 610844, Gene2Phenotype
SPG11 is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Complex SPG with central involvement, including white matter changes. Variable age of onset, including in adolescence/adulthood.Created: 21 Jun 2020, 5:23 a.m. | Last Modified: 21 Jun 2020, 5:23 a.m.
Panel Version: 0.67
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
- Royal Melbourne Hospital
- Phenotypes
-
- Charcot-Marie-Tooth disease, axonal, type 2X, 616668
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spg11 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SPG11 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SPG11 was added gene: SPG11 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPG11 were set to Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Spastic paraplegia 11, autosomal recessive, MIM#604360