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| Fetal anomalies v1.713 | CNTN1 | Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.; to: Comment on list classification: Rating Amber as two families with homozygous variants have now been reported in literature. Both display fetally-relevant phenotypes such as fetal akinesia, polyhydramnios, and contractures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.713 | CNTN1 | Arina Puzriakova Entity copied from Arthrogryposis v3.122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.713 | CNTN1 |
Arina Puzriakova gene: CNTN1 was added gene: CNTN1 was added to Fetal anomalies. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber Mode of inheritance for gene: CNTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTN1 were set to 19026398; 32779773 Phenotypes for gene: CNTN1 were set to Myopathy, congenital, Compton-North, OMIM:612540 Penetrance for gene: CNTN1 were set to Complete |
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