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| BabyScreen+ newborn screening v1.114 | CUL3 | Tommy Li Added phenotypes Pseudohypoaldosteronism, type IIE 614496 for gene: CUL3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.51 | CUL3 | Zornitza Stark Marked gene: CUL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.51 | CUL3 | Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.51 | CUL3 | Zornitza Stark Classified gene: CUL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.51 | CUL3 | Zornitza Stark Gene: cul3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.50 | CUL3 |
Zornitza Stark gene: CUL3 was added gene: CUL3 was added to BabyScreen+ newborn screening. Sources: Expert list treatable, endocrine tags were added to gene: CUL3. Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE 614496 Review for gene: CUL3 was set to GREEN Added comment: Established gene-disease association. Variants in this gene also cause a neurodevelopmental disorder; however, there is some genotype-phenotype correlation literature to help distinguish the two. Results in hyperkalaemia and development of hypertension. However, the onset of hypertension is generally later in life. Treatment: thiazide diuretics normalise biochemical abnormalities Sources: Expert list |
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