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| Skeletal dysplasia v0.314 | OGFRL1 | Zornitza Stark Marked gene: OGFRL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.314 | OGFRL1 | Zornitza Stark Gene: ogfrl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.314 | OGFRL1 |
Zornitza Stark gene: OGFRL1 was added gene: OGFRL1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OGFRL1 were set to 38699440 Phenotypes for gene: OGFRL1 were set to Cherubism (MONDO:0007315), OGFRL1-related Review for gene: OGFRL1 was set to RED Added comment: 3x individuals from 2 unrelated families with cherubism and homozygous NMD-predicted variants in OGFRL1. In one family, the NMD-predicted OGFRL1 variant was identified in 2x affected individuals and was either heterozygous or absent in 7x unaffected family members tested. OGFRL1 knockout mice and mice carrying a patient frameshift mutation were generated, however, neither mouse model recapitulated human cherubism. Absence of homozygous LoF variants in gnomAD v4. Sources: Literature |
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