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| Fetal anomalies v0.661 | MYLPF | Zornitza Stark Marked gene: MYLPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.661 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.661 | MYLPF | Zornitza Stark Classified gene: MYLPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.661 | MYLPF | Zornitza Stark Gene: mylpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.660 | MYLPF | Zornitza Stark reviewed gene: MYLPF: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.612 | MYLPF |
Krithika Murali gene: MYLPF was added gene: MYLPF was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYLPF were set to 32707087 Phenotypes for gene: MYLPF were set to Distal arthrogryposis type 1C (DA1C), MIM#619110 Review for gene: MYLPF was set to AMBER Added comment: MYLPF gene variants associated with dominant and recessive distal arthrogryposis 6 consanguineous families - homozygous for c.470G>T (p.Cys157Phe) or c.469T>C (p.Cys157Arg) variants 7th family - hetrozygous c.487G>A (p.Gly163Ser) variant 8th family - hetrozygous c.98C>T (p.Ala33Val) variant Sources: Expert list, Literature |
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