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  3. LPAR6
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Hair disorders

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

1 review

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Reports in multiple (>20) consanguineous families with mouse model.
Created: 9 May 2022, 12:31 a.m. | Last Modified: 9 May 2022, 12:31 a.m.
Panel Version: 0.13941

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Woolly hair, autosomal recessive 1, with or without hypotrichosis, MIM# 609239

Created: 9 May 2022, 12:31 a.m.
Last Modified: 9 May 2022, 12:31 a.m.
Panel version: Imported from Mendeliome panel version 0.13941

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
  • Hypotrichosis 8, 278150
OMIM
609239
Clinvar variants
Variants in LPAR6
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: LPAR6 was added gene: LPAR6 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LPAR6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LPAR6 were set to Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150; Hypotrichosis 8, 278150