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Genomic newborn screening: BabyScreen+ v1.73 | KLHL3 | Zornitza Stark Marked gene: KLHL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v1.73 | KLHL3 | Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v1.73 | KLHL3 | Zornitza Stark Classified gene: KLHL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v1.73 | KLHL3 | Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v1.72 | KLHL3 |
Zornitza Stark gene: KLHL3 was added gene: KLHL3 was added to BabyScreen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: KLHL3. Mode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495 Review for gene: KLHL3 was set to GREEN Added comment: Established gene disease association. Results in hyperkalaemia and later, the development of hypertension. Treatment: thiazide diuretics normalise electrolytes Non-genetic confirmatory testing: electrolytes Sources: Expert list |