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  3. FDPS
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Rare genetic inflammatory skin disorders

Gene: FDPS

Green List (high evidence)
FDPS (farnesyl diphosphate synthase)
EnsemblGeneIds (GRCh38): ENSG00000160752
EnsemblGeneIds (GRCh37): ENSG00000160752
OMIM: 134629, Gene2Phenotype
FDPS is in 2 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

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

Phenotypes
POROKERATOSIS 9, MULTIPLE TYPES

Publications

Created: 12 Dec 2019, 3:08 p.m.
Last Modified: 12 Dec 2019, 3:08 p.m.
Panel version: 0.21

Catherine Snow (Genomics England)

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that genes associated with Familial disseminated superficial actinic porokeratosis should be included on this panel. Therefore added to panel as a Green gene.
Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.17
Created: 2 Dec 2019, 3:48 p.m.
Last Modified: 2 Dec 2019, 3:48 p.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
OMIM
134629
Clinvar variants
Variants in FDPS
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: FDPS were changed from POROKERATOSIS 9, MULTIPLE TYPES to POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes POROKERATOSIS 9, MULTIPLE TYPES for gene: FDPS Publications for gene FDPS were changed from to 26202976

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to FDPS. Rating Changed from Red List (low evidence) to Green List (high evidence)

2 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Catherine Snow (Genomics England)

gene: FDPS was added gene: FDPS was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Mode of inheritance for gene: FDPS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown