LIPH

lipase H
OMIM: 607365, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green LIPH in Non-syndromic hypotrichosis Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Other Phenotypes Hereditary hypotrichosis simplex (HHS) Hypotrichosis simplex (HS) localized autosomal recessive hypotrichosis-2 (LAH2) Autosomal recessive hypotrichosis Hypotrichosis 7, 604379 HYPT7 Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379 Tags deletions
Red LIPH in Palmoplantar keratoderma and erythrokeratodermas Level 3: Keratodermas Level 2: Dermatological disorders Version 1.35	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Woolly hair/hypotrichosis syndrome
Red LIPH in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Phenotypes Woolly hair/hypotrichosis syndrome
Green LIPH in Ectodermal dysplasia Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypotrichosis 7, 604379 HYPT7 localized autosomal recessive hypotrichosis-2 (LAH2) Autosomal recessive hypotrichosis Hereditary hypotrichosis simplex (HHS) Hypotrichosis simplex (HS) Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379