Familial hypercholesterolaemia

Gene: GHR

Red List (low evidence)

GHR (growth hormone receptor)
EnsemblGeneIds (GRCh38): ENSG00000112964
EnsemblGeneIds (GRCh37): ENSG00000112964
OMIM: 600946, Gene2Phenotype
GHR is in 11 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Laron dwarfism, 262500
  • Short stature, 604271
  • {Hypercholesterolemia, familial, modification of}, 143890
  • Increased responsiveness to growth hormone
OMIM
600946
Clinvar variants
Variants in GHR
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GHR was added to Familial hypercholesterolaemiapanel. Sources: Radboud University Medical Center, Nijmegen