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  3. PSENEN
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Rare genetic inflammatory skin disorders

Gene: PSENEN

Green List (high evidence)
PSENEN (presenilin enhancer gamma-secretase subunit)
EnsemblGeneIds (GRCh38): ENSG00000205155
EnsemblGeneIds (GRCh37): ENSG00000205155
OMIM: 607632, Gene2Phenotype
PSENEN is in 5 panels

1 review

Catherine Snow (Genomics England)

Green List (high evidence)

PSENEN added to panel following advice from Tom Cullup @ GOSH
Sources: Expert list
Created: 11 Dec 2019, 8:52 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2

Publications

Created: 11 Dec 2019, 8:52 p.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
OMIM
607632
Clinvar variants
Variants in PSENEN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PSENEN were changed from ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736

12 Dec 2019, Gel status: 3

Set Phenotypes

Catherine Snow (Genomics England)

Added phenotypes ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE for gene: PSENEN

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

11 Dec 2019, Gel status: 1

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

Catherine Snow (Genomics England)

gene: PSENEN was added gene: PSENEN was added to Rare genetic inflammatory skin disorders. Sources: Expert list Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PSENEN were set to 20929727 Phenotypes for gene: PSENEN were set to ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE; ACNINV2 Review for gene: PSENEN was set to GREEN