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Non-syndromic hypotrichosis

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: 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: 0.2

Details

Mode of Inheritance
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
OMIM
607365
Clinvar variants
Variants in LIPH
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 February 2017: Panel review was assessed, and panel was revised according to expert review and additional curation. Queried with the expert reviewer whether the 'Non-syndromic hypotrichosis' and 'cicatricial alopecia' panels should be combined based on overlapping phenotypes. Celia Moss commented that dermatologists consider cicatricial (scarring) alopecia distinct from simple hypotrichosis (in which there is no scarring); therefore have kept the panels separate.

24 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for LIPH were set to 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

24 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for LIPH was changed to BIALLELIC, autosomal or pseudoautosomal

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

LIPH was added to Non-syndromic hypotrichosispanel. Source: Radboud University Medical Center, Nijmegen

29 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

LIPH was added to Non-syndromic hypotrichosispanel. Sources: Other

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LIPH was created by rfoulger