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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