Childhood solid tumours cancer susceptibility
Gene: GPR161Removed the gene-checked tag as this gene now has a relevant phenotype associated with it in OMIM.Created: 21 Nov 2022, 4:26 p.m. | Last Modified: 21 Nov 2022, 4:26 p.m.
Panel Version: 1.23
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.Created: 4 Aug 2020, 1:55 p.m. | Last Modified: 4 Aug 2020, 1:55 p.m.
Panel Version: 1.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Medulloblastoma predisposition
Publications
6 unrelated individuals reported with germline variants, 5 with truncating, one missense and paediatric medulloblastoma. Somatic second hit in tumour tissue.
Sources: LiteratureCreated: 6 Jul 2020, 7:26 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Predisposition to paediatric medulloblastoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: GPR161 were changed from Predisposition to paediatric medulloblastoma to {Medulloblastoma predisposition syndrome}, OMIM:155255
Tag gene-checked was removed from gene: GPR161.
Tag gene-checked tag was added to gene: GPR161.
Gene: gpr161 has been classified as Green List (High Evidence).
gene: GPR161 was added gene: GPR161 was added to Childhood solid tumours cancer susceptibility. Sources: Literature Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GPR161 were set to 31609649 Phenotypes for gene: GPR161 were set to Predisposition to paediatric medulloblastoma Review for gene: GPR161 was set to GREEN gene: GPR161 was marked as current diagnostic