Childhood solid tumours

Gene: GPR161

Removed the gene-checked tag as this gene now has a relevant phenotype associated with it in OMIM.

Created: 21 Nov 2022, 4:25 p.m. | Last Modified: 21 Nov 2022, 4:25 p.m.

Panel Version: 2.38

Green List (high evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 3 Mar 2022, 11:11 a.m. | Last Modified: 3 Mar 2022, 11:11 a.m.

Panel Version: 2.25

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 5 Aug 2020, 3:01 p.m. | Last Modified: 5 Aug 2020, 3:01 p.m.

Panel Version: 2.9

PMID: 31609649 (2020) - Heterozygous germline variants were identified in 6 unrelated patients with infant-onset sonic hedgehog medulloblastoma (median age, 1.5 years). No additional germline or somatic driver events were detected. 5/6 cases demonstrated biallelic inactivation of GPR151 as a result of a somatic copy-neutral loss of heterozygosity event on chromosome 1q. This event was absent among GPR161 wild-type medulloblastoma tumours.

PMID: 29386106 (2018) - Loss of Gpr161 activity was consistent with medulloblastoma pathogenesis in a mouse model, where Gpr161 deletion increased downstream activity of the sonic hedgehog pathway. Earlier deletion of Gpr161 during embryogenesis increased tumour incidence and severity.
Sources: Literature

Created: 5 Aug 2020, 3 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Medulloblastoma predisposition

Publications

• 29386106
• 31609649