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| Fetal anomalies v1.677 | SPTBN5 | Arina Puzriakova Phenotypes for gene: SPTBN5 were changed from Multicystic kidney; Oligohydramnios to Multicystic kidney; Oligohydramnios; Sacral agenesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.676 | SPTBN5 | Arina Puzriakova Publications for gene: SPTBN5 were set to 32732226 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.675 | SPTBN5 | Arina Puzriakova Mode of inheritance for gene: SPTBN5 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.674 | SPTBN5 | Zornitza Stark reviewed gene: SPTBN5: Rating: RED; Mode of pathogenicity: None; Publications: 28007035; Phenotypes: Sacral agenesis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.670 | SPTBN5 |
Arina Puzriakova gene: SPTBN5 was added gene: SPTBN5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN5 were set to 32732226 Phenotypes for gene: SPTBN5 were set to Multicystic kidney; Oligohydramnios Review for gene: SPTBN5 was set to RED Added comment: Novel candidate gene identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature |
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