Palmoplantar keratodermas

Gene: RHBDF2

Green List (high evidence)

RHBDF2 (rhomboid 5 homolog 2)
EnsemblGeneIds (GRCh38): ENSG00000129667
EnsemblGeneIds (GRCh37): ENSG00000129667
OMIM: 614404, Gene2Phenotype
RHBDF2 is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high 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: RHBDF2; Suggested initial gene rating: Green; Evidence for inclusion: none provided; 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.

Variants in this GENE are reported as part of current diagnostic practice


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • London North GLH
  • Expert Review Green
  • Tylosis with esophageal cancer
Clinvar variants
Variants in RHBDF2
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to RHBDF2.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: RHBDF2 was added gene: RHBDF2 was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RHBDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RHBDF2 were set to Tylosis with esophageal cancer