Hereditary Spastic Paraplegia - paediatric
Gene: SLC33A1EnsemblGeneIds (GRCh38): ENSG00000169359
EnsemblGeneIds (GRCh37): ENSG00000169359
OMIM: 603690, Gene2Phenotype
SLC33A1 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single large multi-generational family reported, age of onset varied from 4 to 42 years. Bi-allelic variants in this gene cause a severe neurodegenerative phenotype.
Sources: Expert listCreated: 18 Apr 2020, 8:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 42, autosomal dominant, MIM# 612539
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Spastic paraplegia 42, autosomal dominant, MIM# 612539
- OMIM
- 603690
- Clinvar variants
- Variants in SLC33A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Hereditary Spastic Paraplegia - adult onset
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Cataract
- Metal Metabolism Disorders
- Intellectual disability syndromic and non-syndromic
- Hereditary Spastic Paraplegia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc33a1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC33A1 was added gene: SLC33A1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC33A1 were set to 19061983; 20461110 Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant, MIM# 612539 Review for gene: SLC33A1 was set to RED