Activity
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5 actions
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| Fetal anomalies v0.4207 | SCNN1B | Zornitza Stark Marked gene: SCNN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4207 | SCNN1B | Zornitza Stark Gene: scnn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4190 | SCNN1B | Chirag Patel Classified gene: SCNN1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4190 | SCNN1B | Chirag Patel Gene: scnn1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4189 | SCNN1B |
Chirag Patel gene: SCNN1B was added gene: SCNN1B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCNN1B were set to PubMed: 8589714 Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I - MIM#264350 Review for gene: SCNN1B was set to GREEN Added comment: Autosomal recessive pseudohypoaldosteronism type I caused by homozygous or compound heterozygous mutation in SCNN1B is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Multiple patients reported. Sources: Literature |
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