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| BabyScreen+ newborn screening v0.1883 | GATM |
Zornitza Stark Tag treatable tag was added to gene: GATM. Tag metabolic tag was added to gene: GATM. |
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| BabyScreen+ newborn screening v0.1883 | GATM | Zornitza Stark Marked gene: GATM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1883 | GATM | Zornitza Stark Gene: gatm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1883 | GATM | Zornitza Stark Classified gene: GATM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1883 | GATM | Zornitza Stark Gene: gatm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1882 | GATM | Zornitza Stark reviewed gene: GATM: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301745; Phenotypes: Cerebral creatine deficiency syndrome 3, MIM#612718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1872 | GATM |
Lilian Downie gene: GATM was added gene: GATM was added to gNBS. Sources: Expert list Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATM were set to PMID: 20301745, 34972654 Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718 Review for gene: GATM was set to GREEN Added comment: GUARDIAN gene list (not on babyseq or rxgenes) ID and myopathy, early onset Rx creatine Seems like a good fit? I'm not clear from the literature how effective the treatment is. check with JC Sources: Expert list |
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