Genes in panel

Neurodegenerative disorders - adult onset

Gene: SORL1

No list

SORL1 (sortilin related receptor 1)
EnsemblGeneIds (GRCh38): ENSG00000137642
EnsemblGeneIds (GRCh37): ENSG00000137642
OMIM: 602005, Gene2Phenotype
SORL1 is in 1 panel

1 review

James Polke (North Thames GLH)

I don't know

Proposed as an amber gene. A published risk locus for late onset Alzheimer's. Some case studies propose a cause of familial early onset AD, though insufficient cases/segregation at present.
Sources: NHS GMS
Created: 27 May 2021, 7:20 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alzheimer's Disease

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Alzheimer's Disease
OMIM
602005
Clinvar variants
Variants in SORL1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

27 May 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

James Polke (North Thames GLH)

gene: SORL1 was added gene: SORL1 was added to Neurodegenerative disorders - adult onset. Sources: NHS GMS Mode of inheritance for gene: SORL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SORL1 were set to 28537274; 22472873; 28595629; 32587946 Phenotypes for gene: SORL1 were set to Alzheimer's Disease Penetrance for gene: SORL1 were set to unknown Review for gene: SORL1 was set to AMBER