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BabyScreen+ newborn screening v1.114 KLHL3 Tommy Li Added phenotypes Pseudohypoaldosteronism, type IID, MIM# 614495 for gene: KLHL3
BabyScreen+ newborn screening v1.73 KLHL3 Zornitza Stark Marked gene: KLHL3 as ready
BabyScreen+ newborn screening v1.73 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening v1.73 KLHL3 Zornitza Stark Classified gene: KLHL3 as Green List (high evidence)
BabyScreen+ newborn screening v1.73 KLHL3 Zornitza Stark Gene: klhl3 has been classified as Green List (High Evidence).
BabyScreen+ newborn screening 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