| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Nephrocalcinosis or nephrolithiasis v2.32 | MOCOS |
Eleanor Williams Tag Q3_21_rating was removed from gene: MOCOS. Tag Q3_21_NHS_review was removed from gene: MOCOS. |
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| Nephrocalcinosis or nephrolithiasis v2.32 | MOCOS | Eleanor Williams commented on gene: MOCOS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.31 | MOCOS |
Eleanor Williams Source Expert Review Green was added to MOCOS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Nephrocalcinosis or nephrolithiasis v2.24 | MOCOS | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: MOCOS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.24 | MOCOS | Eleanor Williams Classified gene: MOCOS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.24 | MOCOS | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, with a recommendation for green rating following GMS review. 2 cases where urolithiasis is part of the Xanthinuria type 2 phenotype. Additional evidence from animal models. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.24 | MOCOS | Eleanor Williams Gene: mocos has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.23 | MOCOS | Eleanor Williams Phenotypes for gene: MOCOS were changed from Xanthinuria type II (MIM603592) to Xanthinuria, type II, OMIM:603592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.22 | MOCOS | Eleanor Williams Publications for gene: MOCOS were set to PMID: 11302742; 17368066; 14624414; 25967871; 34356852; 32073534; 30758870; 27919260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.21 | MOCOS | Eleanor Williams Tag Q3_21_rating tag was added to gene: MOCOS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Nephrocalcinosis or nephrolithiasis v2.21 | MOCOS | Eleanor Williams reviewed gene: MOCOS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xanthinuria, type II, OMIM:603592; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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