| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Miscellaneous Metabolic Disorders v0.313 | ACSF3 | Zornitza Stark Marked gene: ACSF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.313 | ACSF3 | Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.15 | ACSF3 | Bryony Thompson Classified gene: ACSF3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.15 | ACSF3 | Bryony Thompson Gene: acsf3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.14 | ACSF3 |
Bryony Thompson gene: ACSF3 was added gene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACSF3 were set to 21841779; 30740739 Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265 Review for gene: ACSF3 was set to AMBER Added comment: ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec. Sources: NHS GMS |
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