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 1.13

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 1.31

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Woolly hair/hypotrichosis syndrome
Red LIPH in Ichthyosis and erythrokeratoderma


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
Phenotypes
  • Woolly hair/hypotrichosis syndrome
Green LIPH in Ectodermal dysplasia


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

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