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| Genomic screening in children: BabyScreen+ v0.91 | KCNJ11 |
Zornitza Stark Tag treatable tag was added to gene: KCNJ11. Tag endocrine tag was added to gene: KCNJ11. |
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| Genomic screening in children: BabyScreen+ v0.85 | KCNJ11 | Zornitza Stark Marked gene: KCNJ11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.85 | KCNJ11 | Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.85 | KCNJ11 | Zornitza Stark Classified gene: KCNJ11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.85 | KCNJ11 | Zornitza Stark Gene: kcnj11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic screening in children: BabyScreen+ v0.84 | KCNJ11 |
Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to Genomic screening in children: BabyScreen+. Sources: Literature Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ11 were set to 32027066; 32376986 Phenotypes for gene: KCNJ11 were set to Monogenic diabetes MONDO:0015967, KCNJ11-related Review for gene: KCNJ11 was set to GREEN Added comment: DEFINITIVE by ClinGen. The usual mechanism for disease is heterozygous gain of function. Note multiple disease entities are associated with variants in this gene. The ClinGen Lumping and Splitting Working Group has split curations for these disease entities. The following entities have been lumped under (1) autosomal dominant monogenic diabetes, which presents as three phenotypic disease sub-entities: (1A) Permanent neonatal diabetes mellitus, (MIM:606176), (1B) Transient neonatal diabetes, 3 (MIM:125853), and less commonly, (1C) Maturity-onset diabetes of the young, type 13 (MODY13) (MIM:616329). These have been split from (2) hyperinsulinaemic hypoglycaemia, familial, 2 (MIM:601820). Sources: Literature |
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