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  2. Monogenic short stature
  3. GPR161
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Monogenic short stature

Gene: GPR161

Red List (low evidence)
GPR161 (G protein-coupled receptor 161)
EnsemblGeneIds (GRCh38): ENSG00000143147
EnsemblGeneIds (GRCh37): ENSG00000143147
OMIM: 612250, Gene2Phenotype
GPR161 is in 5 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk
OMIM
612250
Clinvar variants
Variants in GPR161
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: GPR161 was added gene: GPR161 was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPR161 were set to 25322266 Phenotypes for gene: GPR161 were set to Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk