Palmoplantar keratodermas
Gene: RHBDF2

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

Created: 28 Jan 2019, 10:47 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Tylosis with esophageal cancer

OMIM

614404

Clinvar variants

Variants in RHBDF2

Penetrance

None

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