EXPH5

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green EXPH5 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 Epidermolysis bullosa simplex
Green EXPH5 in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.17 Latest signed off version: v2.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Red EXPH5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.5 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS PAGE DD-Gene2Phenotype Phenotypes Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM:615028 INHERITED SKIN FRAGILITY
Green EXPH5 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes INHERITED SKIN FRAGILITY 615028