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| Fetal anomalies v0.4186 | SCNN1G | Chirag Patel Classified gene: SCNN1G as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4186 | SCNN1G | Chirag Patel Gene: scnn1g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1036 | SCNN1G | Zornitza Stark Marked gene: SCNN1G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1036 | SCNN1G | Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1036 | SCNN1G | Zornitza Stark Classified gene: SCNN1G as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1036 | SCNN1G | Zornitza Stark Gene: scnn1g has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.982 | SCNN1G |
Krithika Murali gene: SCNN1G was added gene: SCNN1G was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCNN1G were set to 8640238; 11231969; 31522814; 7633160 Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I - MIM#264350 Review for gene: SCNN1G was set to AMBER Added comment: PMID 8640238 - same 3′ splice site mutation in SCNN1G identified in 3 unrelated families from the Indian subcontinent presenting with severe generalised PHA ?founder mutation PMID 11231969 - compound het in Japanese child diagnosed as neonate PMID 31522814 - homozygous variant identified in neonate presenting with nephropathy PMID 7633160 (1995) - PHA reported as likely cause of severe polyhydramnios in 5 patients from 3 unrelated families - not genotyped. SCNN1G related PHA rare diagnosis, possible to present as severe polyhydramnios. Early diagnosis beneficial as PHA can be a life-threatening condition in the neonatal period with therapeutic options available. Sources: Literature |
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