Regression
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 neurological phenotypes with onset in first and second decade, characterised by gradual deterioration.
Sources: Expert ReviewCreated: 3 Mar 2020, 10:46 p.m.
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
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- 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
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: spg11 has been classified as Green List (High Evidence).
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 Regression. Sources: Expert Review Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 21381113; 22554690; 19224311; 18067136; 27820618 Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM#604360; Charcot-Marie-Tooth disease, axonal, type 2X, MIM#616668; Amyotrophic lateral sclerosis 5, juvenile, MIM#602099 Review for gene: SPG11 was set to GREEN gene: SPG11 was marked as current diagnostic