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| Hypertension and Aldosterone disorders v0.20 | NR3C1 | Zornitza Stark Marked gene: NR3C1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.20 | NR3C1 | Zornitza Stark Gene: nr3c1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.20 | NR3C1 | Chirag Patel Classified gene: NR3C1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.20 | NR3C1 | Chirag Patel Gene: nr3c1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v0.19 | NR3C1 |
Chirag Patel gene: NR3C1 was added gene: NR3C1 was added to Renal Hypertension and Disorders of Aldosterone Metabolism. Sources: Literature Mode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NR3C1 were set to PubMed: 12754700, 1704018, 8445027, 31995340 Phenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962 Review for gene: NR3C1 was set to GREEN Added comment: Hurley et al. (1991) identified a heterozygous missense mutation in the GCR gene (D641V) in affected members of the kindred originally reported by Vingerhoeds et al. (1976) with generalized glucocorticoid deficiency. Karl et al. (1993) identified heterozygosity for a 4-bp deletion in the GCR gene in all 3 affected members of a Dutch kindred with glucocorticoid resistance. Bray and Cotton (2003) stated that a total of 15 missense, 3 nonsense, 3 frameshift, 1 splice site, and 2 alternatively spliced mutations had been reported in the NR3C1 gene to be associated with glucocorticoid resistance. Sixteen polymorphisms in the gene had also been reported. Sources: Literature |
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