Defects of intrinsic and innate immunity

Gene: PSEN1

Green List (high evidence)

PSEN1 (presenilin 1)
EnsemblGeneIds (GRCh38): ENSG00000080815
EnsemblGeneIds (GRCh37): ENSG00000080815
OMIM: 104311, Gene2Phenotype
PSEN1 is in 12 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease).
Sources: Expert list
Created: 19 Mar 2021, 3:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Acne inversa, familial, 3 MIM#613737

Publications

History Filter Activity

15 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: psen1 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: psen1 has been classified as Green List (High Evidence).

19 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PSEN1 was added gene: PSEN1 was added to Defects of innate immunity. Sources: Expert list Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224 Phenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737 Review for gene: PSEN1 was set to GREEN