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| Paediatric disorders - additional genes v0.28 | CFC1 | Helen Brittain Classified gene: CFC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.28 | CFC1 | Helen Brittain Added comment: Comment on list classification: Meets criteria for green rating in 100K - awaiting higher level sign off for GMS indication | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.28 | CFC1 | Helen Brittain Gene: cfc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v0.27 | CFC1 |
Helen Brittain gene: CFC1 was added gene: CFC1 was added to Paediatric disorders - additional genes. Sources: Literature Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CFC1 were set to 11062482; 11799476 Phenotypes for gene: CFC1 were set to Heterotaxy, visceral, 2, autosomal 605376 Review for gene: CFC1 was set to GREEN Added comment: Three unrelated cases with laterality defects with two LOF mutations in PMID 11062482. Also PMID 11799476 reports two cases with congenital cardiac malformations (TGA/DORV). Considered sufficient cases for inclusion. Sources: Literature |
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