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  3. SORL1
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Adult onset neurodegenerative disorder

Gene: SORL1

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

2 reviews

Sarah Leigh (Genomics England Curator)

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
Created: 13 Aug 2021, 10:11 a.m.
Last Modified: 13 Aug 2021, 10:11 a.m.
Panel version: 2.183

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

Created: 27 May 2021, 7:20 p.m.

Panel version: 2.174

Details

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

History Filter Activity

10 Mar 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_NHS_review was removed from gene: SORL1.

19 Aug 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: SORL1.

13 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sorl1 has been classified as Amber List (Moderate Evidence).

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