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| BabyScreen+ newborn screening v0.1948 | FAM111A | Zornitza Stark Marked gene: FAM111A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1948 | FAM111A | Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1948 | FAM111A | Zornitza Stark Classified gene: FAM111A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1948 | FAM111A | Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1947 | FAM111A |
Zornitza Stark Tag treatable tag was added to gene: FAM111A. Tag skeletal tag was added to gene: FAM111A. |
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| BabyScreen+ newborn screening v0.1947 | FAM111A |
Zornitza Stark gene: FAM111A was added gene: FAM111A was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000 Review for gene: FAM111A was set to GREEN Added comment: Condition is characterised by impaired skeletal development with small and dense bones, short stature, ocular abnormalities, and primary hypoparathyroidism with hypocalcemia. At least 10 unrelated cases reported with de novo missense variants. Intellectual disability/developmental delay is a rare feature of the condition. Treatment: magnesium, calcium and calcitriol or alfacalcidol Non-genetic confirmatory testing: serum calcium, parathyroid hormone level, calcitonin level Sources: Expert Review |
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