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  3. LPAR6
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Ectodermal dysplasia

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 8
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
  • HYPT8
  • localized autosomal recessive hypotrichosis-3 (LAH3)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • Hypotrichosis 8, 278150
OMIM
609239
Clinvar variants
Variants in LPAR6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LPAR6 was added gene: LPAR6 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LPAR6 were set to 21426374; 21070332; 18461368 Phenotypes for gene: LPAR6 were set to Hypotrichosis 8; Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; HYPT8; localized autosomal recessive hypotrichosis-3 (LAH3); Autosomal recessive hypotrichosis; Hereditary hypotrichosis simplex (HHS); Hypotrichosis simplex (HS); Hypotrichosis 8, 278150