| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.317 | SARDH | Bryony Thompson Marked gene: SARDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.317 | SARDH | Bryony Thompson Gene: sardh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.317 | SARDH | Bryony Thompson Classified gene: SARDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.317 | SARDH | Bryony Thompson Added comment: Comment on list classification: Benign metabolic state producing no disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.317 | SARDH | Bryony Thompson Gene: sardh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.316 | SARDH |
Bryony Thompson gene: SARDH was added gene: SARDH was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SARDH were set to 22825317; 27604308 Phenotypes for gene: SARDH were set to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism Review for gene: SARDH was set to GREEN Added comment: 4 individuals from 3 consanguineous Israeli Arab families and 3 individuals from 3 French families who had elevated levels of sarcosine in blood and urine. Sources: Literature |
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