Regression
Gene: CAPRIN1EnsemblGeneIds (GRCh38): ENSG00000135387
EnsemblGeneIds (GRCh37): ENSG00000135387
OMIM: 601178, Gene2Phenotype
CAPRIN1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course with onset in childhood.
Another 12 individuals reported in previous publications with ID/SZ.
Sources: Expert ReviewCreated: 10 Dec 2023, 6:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636
- OMIM
- 601178
- Clinvar variants
- Variants in CAPRIN1
- 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: caprin1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: caprin1 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CAPRIN1 was added gene: CAPRIN1 was added to Regression. Sources: Expert Review Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAPRIN1 were set to 36136249 Phenotypes for gene: CAPRIN1 were set to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 Review for gene: CAPRIN1 was set to GREEN