| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1994 | IFITM5 | Zornitza Stark Marked gene: IFITM5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1994 | IFITM5 | Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1994 | IFITM5 | Zornitza Stark Classified gene: IFITM5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1994 | IFITM5 | Zornitza Stark Gene: ifitm5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1993 | IFITM5 |
Zornitza Stark gene: IFITM5 was added gene: IFITM5 was added to Baby Screen+ newborn screening. Sources: Expert list 5'UTR, treatable, skeletal tags were added to gene: IFITM5. Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFITM5 were set to 22863190; 22863195; 32383316; 24519609 Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta, type V MIM#610967 Review for gene: IFITM5 was set to GREEN Added comment: A recurrent c.-14C>T variant has been reported in many patients with type V OI. It introduces an alternative in-frame start codon upstream that is stronger than the reference start codon in transfected HEK cells (PMIDs: 22863190, 22863195). However, the effect of mutant protein (5 amino acids longer) remains unknown but neomorphic mechanism is a widely accepted hypothesis (PMIDs: 25251575, 32383316). Variable severity, including within families. However, severe perinatal presentations reported. Treatment: bisphosphanates. Non-genetic confirmatory testing: skeletal survey. Sources: Expert list |
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