Activity
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| Autoinflammatory disorders v2.3 | OGFRL1 | Arina Puzriakova Classified gene: OGFRL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.3 | OGFRL1 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. Rating Amber, awaiting further cases. To date, a single publication (PMID: 38699440) has reported two unrelated cherubism families with homozygous variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.3 | OGFRL1 | Arina Puzriakova Gene: ogfrl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.2 | OGFRL1 | Arina Puzriakova Publications for gene: OGFRL1 were set to PMID: 38699440 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.1 | OGFRL1 |
Hannah Knight gene: OGFRL1 was added gene: OGFRL1 was added to Autoinflammatory disorders. Sources: Literature Mode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGFRL1 were set to PMID: 38699440 Phenotypes for gene: OGFRL1 were set to Cherubism Review for gene: OGFRL1 was set to AMBER Added comment: PMID: 38699440 (2024) identified two different homozygous LOF mutations in two unrelated families with cherubism. Functional work carried out, but inconclusive - mouse model did not recapitulate human cherubism Sources: Literature |
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