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| BabyScreen+ newborn screening v1.114 | MTHFS | Tommy Li Added phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 for gene: MTHFS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2032 | MTHFS | Zornitza Stark Marked gene: MTHFS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2032 | MTHFS | Zornitza Stark Gene: mthfs has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2032 | MTHFS |
Zornitza Stark gene: MTHFS was added gene: MTHFS was added to Baby Screen+ newborn screening. Sources: Expert list metabolic tags were added to gene: MTHFS. Mode of inheritance for gene: MTHFS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTHFS were set to 30031689; 31844630; 22303332 Phenotypes for gene: MTHFS were set to Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Review for gene: MTHFS was set to RED Added comment: Established gene-disease association. Onset in infancy. Severe disorder. Treatment: single report of some improvement with combination of oral L-5- methyltetrahydrofolate and intramuscular methylcobalamin Sources: Expert list |
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