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| Prepair 1000+ v0.91 | MCCC1 | Zornitza Stark reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.91 | MCCC1 | Zornitza Stark Marked gene: MCCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.91 | MCCC1 | Zornitza Stark Gene: mccc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.91 | MCCC1 | Zornitza Stark Classified gene: MCCC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.91 | MCCC1 | Zornitza Stark Gene: mccc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | MCCC1 |
Crystle Lee gene: MCCC1 was added gene: MCCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCCC1 were set to 31730530 Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200) Review for gene: MCCC1 was set to RED Added comment: Highly variable phenotype. May present in infancy but also be present in asymptomatic adults (OMIM) Variants in this gene cause a biochemical defect. The relationship to clinical phenotype has been questioned by NBS programs, PMID 31730530. Sources: Literature |
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