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Fetal anomalies v0.316 | INTU | Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.316 | INTU | Rebecca Foulger Mode of inheritance for gene: INTU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.311 | INTU | Rebecca Foulger reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28289185, 29451301; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Fetal anomalies v0.310 | INTU |
Rebecca Foulger gene: INTU was added gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTU were set to 28289185; 30266093; 29451301 Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 |