Hereditary Spastic Paraplegia - adult onset
Gene: BSCL2EnsemblGeneIds (GRCh38): ENSG00000168000
EnsemblGeneIds (GRCh37): ENSG00000168000
OMIM: 606158, Gene2Phenotype
BSCL2 is in 15 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Age of onset 8-40 years.
Bi-allelic variants cause a more severe neurodegenerative phenotype with onset in first few years of life.Created: 15 Mar 2021, 11:33 p.m. | Last Modified: 15 Mar 2021, 11:35 p.m.
Panel Version: 0.55
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Silver spastic paraplegia syndrome MIM#270685
Bryony Thompson (Royal Melbourne Hospital)
Variable age of onset, including paediatric onset.
Sources: Expert listCreated: 17 Apr 2020, 7 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Silver spastic paraplegia syndrome MIM#270685; Encephalopathy, progressive, with or without lipodystrophy MIM#615924
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Royal Melbourne Hospital
- Phenotypes
-
- Silver spastic paraplegia syndrome, 270685
- HSP 17, MONDO:0010043
- OMIM
- 606158
- Clinvar variants
- Variants in BSCL2
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Monogenic Diabetes
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Genetic Epilepsy
- Motor Neurone Disease
- Regression
- Hereditary Spastic Paraplegia - adult onset
- Additional findings_Paediatric
- Lipodystrophy_Lipoatrophy
- Mendeliome
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bscl2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043 to Silver spastic paraplegia syndrome, 270685; HSP 17, MONDO:0010043
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BSCL2 was added gene: BSCL2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome, 270685