| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Vitamin metabolism disorders v0.18 | ZNF143 | Bryony Thompson Marked gene: ZNF143 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v0.18 | ZNF143 | Bryony Thompson Gene: znf143 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v0.18 | ZNF143 | Bryony Thompson Classified gene: ZNF143 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v0.18 | ZNF143 | Bryony Thompson Gene: znf143 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Vitamin metabolism disorders v0.17 | ZNF143 |
Bryony Thompson gene: ZNF143 was added gene: ZNF143 was added to Inherited vitamin B12 or cobalamin deficiency. Sources: Literature Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF143 were set to 27349184; 33845046; 9009278; 22268977; 27349184; 27349184 Phenotypes for gene: ZNF143 were set to methylmalonic aciduria and homocystinuria MONDO:0016826 Review for gene: ZNF143 was set to AMBER Added comment: Only a single case with biallelic variants reported. However, given a Moderate gene-disease validity classification by the General Inborn Errors of Metabolism GCEP (assessed 05/03/2024). The gene-disease relationship is also supported by biochemical evidence, functional alteration assays, model systems, and rescue experiments Sources: Literature |
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