| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Prepair 1000+ v1.1724 | SCNN1A | Zornitza Stark Marked gene: SCNN1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1724 | SCNN1A | Zornitza Stark Gene: scnn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1724 | SCNN1A | Zornitza Stark Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, type I, 264350 (3) to Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1723 | SCNN1A | Zornitza Stark Publications for gene: SCNN1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1566 | SCNN1A |
Lauren Thomas changed review comment from: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia. HGNC approved symbol/name: SCNN1A Is the phenotype(s) severe and onset <18yo? Yes Treatments available: Yes, supplementary sodium, but not mineralocorticoids Known technical challenges? No Gene reported in 3 independent families: Yes; to: Well established gene-disease association. Childhood onset, potentially lethal salt wasting condition characterised by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. Treatment for this condition involves aggressive salt replacement and control of hyperkalemia. HGNC approved symbol/name: SCNN1A Is the phenotype(s) severe and onset <18yo? Yes Treatments available: Yes, supplementary sodium, but not mineralocorticoids Known technical challenges? No Gene reported in 3 independent families: Yes NOTE: Limited evidence for association between mono-allelic variants and disease (bronchiectasis with or without elevated sweat chloride 2, MIM# 613021; Liddle syndrome 3, MIM# 618126) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1566 | SCNN1A | Lauren Thomas reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23416952, 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type IB1, autosomal recessive, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | SCNN1A |
Zornitza Stark gene: SCNN1A was added gene: SCNN1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||