RHBDF2:Ensemblv90

rhomboid 5 homolog 2
OMIM: 614404, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green RHBDF2 in Mendeliome Version 1.3802	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tylosis with esophageal cancer, MIM# 148500 Immune dysregulation
Green RHBDF2 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.137	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Tylosis with oesophageal cancer, MIM# 148500
Green RHBDF2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.34 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Pneumonia Colitis Immunodeficiency
Red RHBDF2 in NCGC Version 0.3	0 reviews	Other	Sources NCGC Phenotypes Howel-Evans syndrome
Red RHBDF2 in TCGA_PANCAN_2018 Version 0.3	0 reviews	Other	Sources TCGA_PANCAN_2018 Phenotypes Howel-Evans syndrome
Green RHBDF2 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Tylosis with oesophageal cancer, MIM# 148500
Green RHBDF2 in Disorders of immune dysregulation Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Pneumonia Colitis Immunodeficiency