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Childhood solid tumours v2.38 | GPR161 | Eleanor Williams commented on gene: GPR161 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.38 | GPR161 | Eleanor Williams Phenotypes for gene: GPR161 were changed from Medulloblastoma predisposition to {Medulloblastoma predisposition syndrome}, OMIM:155255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.37 | GPR161 | Eleanor Williams Tag gene-checked was removed from gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.33 | GPR161 | Arina Puzriakova Tag gene-checked tag was added to gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.25 | GPR161 | Arina Puzriakova Tag for-review was removed from gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.25 | GPR161 | Arina Puzriakova commented on gene: GPR161: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.24 | GPR161 |
Arina Puzriakova Source Expert Review Green was added to GPR161. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Childhood solid tumours v2.9 | GPR161 | Arina Puzriakova Classified gene: GPR161 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.9 | GPR161 | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.9 | GPR161 | Arina Puzriakova Gene: gpr161 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.8 | GPR161 | Arina Puzriakova Tag for-review tag was added to gene: GPR161. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood solid tumours v2.8 | GPR161 |
Arina Puzriakova gene: GPR161 was added gene: GPR161 was added to Tumour predisposition - childhood onset. Sources: Literature Mode of inheritance for gene: GPR161 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GPR161 were set to 29386106; 31609649 Phenotypes for gene: GPR161 were set to Medulloblastoma predisposition Review for gene: GPR161 was set to GREEN Added comment: 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 |