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  3. LIPH
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Hair disorders

Gene: LIPH

Green List (high evidence)
LIPH (lipase H)
EnsemblGeneIds (GRCh38): ENSG00000163898
EnsemblGeneIds (GRCh37): ENSG00000163898
OMIM: 607365, Gene2Phenotype
LIPH is in 2 panels

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association, extensive literature publications
Created: 2 May 2022, 2:39 a.m. | Last Modified: 2 May 2022, 2:39 a.m.
Panel Version: 0.13588

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woolly hair, autosomal recessive 2 with or without hypotrichosis, MIM# 604379; Hypotrichosis 7, MIM# 604379

Created: 2 May 2022, 2:39 a.m.
Last Modified: 2 May 2022, 2:39 a.m.
Panel version: Imported from Mendeliome panel version 0.13588

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
  • Hypotrichosis 7, 604379
OMIM
607365
Clinvar variants
Variants in LIPH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: LIPH was added gene: LIPH was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPH were set to 31332722 Phenotypes for gene: LIPH were set to Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379; Hypotrichosis 7, 604379