Palmoplantar keratodermas

Gene: PERP

Red List (low evidence)

PERP (PERP, TP53 apoptosis effector)
EnsemblGeneIds (GRCh38): ENSG00000112378
EnsemblGeneIds (GRCh37): ENSG00000112378
OMIM: 609301, Gene2Phenotype
PERP is in 2 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PERP; Suggested initial gene rating: Red; Evidence for inclusion: PMID:30321533; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Dominant and Recessive Keratoderma
OMIM
609301
Clinvar variants
Variants in PERP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to PERP.

28 Jan 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PERP was added gene: PERP was added to Palmoplantar keratodermas. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PERP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PERP were set to 30321533 Phenotypes for gene: PERP were set to Dominant and Recessive Keratoderma