Hereditary Spastic Paraplegia - adult onset
Gene: CAPN1EnsemblGeneIds (GRCh38): ENSG00000014216
EnsemblGeneIds (GRCh37): ENSG00000014216
OMIM: 114220, Gene2Phenotype
CAPN1 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
8 individuals from three families reported, predominantly young adult onset.
Sources: Expert listCreated: 28 Dec 2019, 1:10 a.m. | Last Modified: 18 Sep 2020, 7:21 a.m.
Panel Version: 0.23
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 76, autosomal recessive, MIM#616907
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert list
- Phenotypes
-
- Spastic paraplegia 76 autosomal recessive, 616907
- MONDO:0014827
- OMIM
- 114220
- Clinvar variants
- Variants in CAPN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: capn1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CAPN1 were changed from Spastic paraplegia 76 autosomal recessive, 616907 to Spastic paraplegia 76 autosomal recessive, 616907; MONDO:0014827
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CAPN1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CAPN1 was added gene: CAPN1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive, 616907