Activity
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| Nephrocalcinosis or nephrolithiasis v2.21 | MOCOS |
Detlef Bockenhauer gene: MOCOS was added gene: MOCOS was added to Nephrocalcinosis or nephrolithiasis. Sources: Literature Mode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCOS were set to PMID: 11302742; 17368066; 14624414; 25967871; 34356852; 32073534; 30758870; 27919260 Phenotypes for gene: MOCOS were set to Xanthinuria type II (MIM603592) Penetrance for gene: MOCOS were set to Incomplete Review for gene: MOCOS was set to GREEN Added comment: This gene had not been previously included in this panel, but there is good evidence from several publications that recessive loss-of-function variants in MOCOS are associated with Xanthinuria type 2. There is also a good pathophysiologic basis: MOCOS encodes a necessary co-factor for the 2 enzymes that degrade Xanthine, XDH and AOX1. Moreover, there are spontaneous animal models, with MOCOS variants identified in a goat (PMID 30758870) and Tyrolean grey cattle (PMID 27919260). Sources: Literature |
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| Nephrocalcinosis or nephrolithiasis | XDH | Louise Daugherty reviewed XDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis | XDH | Sarah Leigh classified XDH as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis | XDH | Sarah Leigh commented on XDH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||