Neurodegenerative disorders - adult onsetGene: SORL1
Comment on list classification: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. The cited publications give evidence for a role for SORL1 in the development of Alzheimers disease (PMIDs 28537274; 22472873; 28595629; 32587946).
Created: 13 Aug 2021, 10:11 a.m. | Last Modified: 13 Aug 2021, 10:11 a.m.
Panel Version: 2.183
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
Tag Q3_21_NHS_review tag was added to gene: SORL1.
Gene: sorl1 has been classified as Amber List (Moderate Evidence).
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