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Non-syndromic hypotrichosis

Gene: LPAR6

Green List (high evidence)
LPAR6 (lysophosphatidic acid receptor 6)
EnsemblGeneIds (GRCh38): ENSG00000139679
EnsemblGeneIds (GRCh37): ENSG00000139679
OMIM: 609239, Gene2Phenotype
LPAR6 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: OMIM supports a biallelic inheritance: mutations in LPAR6 cause autosomal recessive hypotrichosis (OMIM:278150).
Created: 23 Jan 2017, 4:01 p.m.
Comment on list classification: Updated rating from Red to Green: 1 Green review plus >3 cases of LPAR6 mutations causing hypotrichosis (OMIM:278150) in a few populations (Saudi Arabian, Turkish and Pakistani).
Created: 23 Jan 2017, 3:59 p.m.
Created: 23 Jan 2017, 3:59 p.m.

Panel version: 0.14

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

Well-established. Phenotype is variable within families
Created: 21 Jan 2017, 10:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
woolly hair; hypotrichosis

Created: 21 Jan 2017, 10:47 a.m.

Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hypotrichosis 8, 278150
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • localized autosomal recessive hypotrichosis-3 (LAH3)
  • Autosomal recessive hypotrichosis
  • Hypotrichosis 8
  • HYPT8
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
OMIM
609239
Clinvar variants
Variants in LPAR6
Penetrance
Complete
Publications
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

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for LPAR6 were set to Hypotrichosis 8, 278150; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hypotrichosis 8; HYPT8; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150

23 Jan 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene LPAR6 were set to Hypotrichosis 8, 278150;Hereditary hypotrichosis simplex (HHS);Hypotrichosis simplex (HS);localized autosomal recessive hypotrichosis-3 (LAH3);Autosomal recessive hypotrichosis;Hypotrichosis 8;HYPT8;woolly hair;hypotrichosis

23 Jan 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for LPAR6 was changed to BIALLELIC, autosomal or pseudoautosomal

23 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).

23 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for LPAR6 were set to Hypotrichosis 8, 278150; ; Hereditary hypotrichosis simplex; Hypotrichosis simplex; HS; HHS; LAH3; localized autosomal recessive hypotrichosis-3; Autosomal recessive hypotrichosis; Hypotrichosis 8; HYPT8; woolly hair; hypotrichosis

23 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene LPAR6 were set to Hypotrichosis 8, 278150;Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hypotrichosis 8; HYPT8

29 Nov 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

LPAR6 was added to Non-syndromic hypotrichosispanel. Source: Other Model of inheritance for gene LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal

29 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

LPAR6 was created by rfoulger

29 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

LPAR6 was added to Non-syndromic hypotrichosispanel. Sources: Radboud University Medical Center, Nijmegen