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  3. LIPH
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Ectodermal dysplasia

Gene: LIPH

Green List (high evidence)
LIPH (lipase H)
EnsemblGeneIds (GRCh38): ENSG00000163898
EnsemblGeneIds (GRCh37): ENSG00000163898
OMIM: 607365, Gene2Phenotype
LIPH is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Added 'deletions' tag: Reported LIPH variants for Hypotrichosis 7 (OMIM:604379) include (but not limited to) deletion of Exon 4, and a Exon7-8 deletion.
Created: 24 Jan 2017, 5:11 p.m.
Comment on list classification: Updated rating from Red to Green: Not a DDG2P confirmed gene but 1 Green review plus 3 unrelated cases of LIPH variants causing Hypotrichosis 7 (OMIM:604379). Further LIPH variants for Woolly hair, autosomal recessive 2 with or without hypotrichosis (OMIM:604379).
Created: 24 Jan 2017, 3:44 p.m.
Comment on mode of inheritance: OMIM and the literature (homozygous LIPH mutations detected in PMID:17095700, PMID:17333281 and PMID:18445047) support a biallelic mode of inheritance.
Created: 24 Jan 2017, 3:41 p.m.
Created: 24 Jan 2017, 3:58 p.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.37

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

Well-established. Phenotype is variable within familes
Created: 21 Jan 2017, 10:44 a.m.
Well-esrablished. Phenotype is variable within familes
Created: 21 Jan 2017, 10:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
woolly hair; hypotrichosis

Created: 21 Jan 2017, 10:44 a.m.

Panel version: Imported from Non-syndromic hypotrichosis panel version 0.2

Details

Mode of Inheritance
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
OMIM
607365
Clinvar variants
Variants in LIPH
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LIPH was added gene: LIPH was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: LIPH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPH were set to 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