| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.459 | LRGUK | Rylee Peters Marked gene: LRGUK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.459 | LRGUK | Rylee Peters Gene: lrguk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.459 | LRGUK | Rylee Peters Classified gene: LRGUK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.459 | LRGUK | Rylee Peters Gene: lrguk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.458 | LRGUK |
Rylee Peters gene: LRGUK was added gene: LRGUK was added to Mendeliome. Sources: Literature Mode of inheritance for gene: LRGUK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRGUK were set to 42493466; 38884051 Phenotypes for gene: LRGUK were set to Infertility disorder, MONDO:0005047, LRGUK-related Review for gene: LRGUK was set to AMBER Added comment: PMID: 38884051 and PMID: 42493466 report 3 individuals from 2 families with biallelic loss-of-function LRGUK variants presenting with male infertility (asthenozoospermia and multiple morphological abnormalities of the sperm flagella). Functional studies show loss of LRGUK protein and flagellar ultrastructural defects. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||