LIPH

lipase H
OMIM: 607365, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green LIPH in Non-syndromic hypotrichosis

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.9

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 1.20

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Woolly hair/hypotrichosis syndrome

Red LIPH in Ichthyosis and erythrokeratoderma


Version 1.66
Latest signed off version: v1.3 (15 Oct 2020)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • Woolly hair/hypotrichosis syndrome

Green LIPH in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

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