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| Renal tubulopathies v2.35 | HNF4A | Eleanor Williams Phenotypes for gene: HNF4A were changed from Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.34 | HNF4A | Eleanor Williams Tag for-review was removed from gene: HNF4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.32 | HNF4A | Eleanor Williams commented on gene: HNF4A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.31 | HNF4A |
Eleanor Williams Source Expert Review Green was added to HNF4A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Renal tubulopathies v2.17 | HNF4A | Catherine Snow Classified gene: HNF4A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.17 | HNF4A | Catherine Snow Added comment: Comment on list classification: Changed rating to Amber to reflect NHS signed-off rating, will be examined at next panel review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.17 | HNF4A | Catherine Snow Gene: hnf4a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.13 | HNF4A | Eleanor Williams Tag for-review tag was added to gene: HNF4A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.4 | HNF4A | Catherine Snow Classified gene: HNF4A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.4 | HNF4A | Catherine Snow Added comment: Comment on list classification: HNF4A sufficient individuals who are unrelated and from different populations in the literature to classify this as Green. Variable phenotype reported although currently only one variant p.R63W. PMID 28458902 reported a patients with the variant and reviewed other published case. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.4 | HNF4A | Catherine Snow Gene: hnf4a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v2.0 | HNF4A |
Zornitza Stark gene: HNF4A was added gene: HNF4A was added to Renal tubulopathies. Sources: Expert list Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 22802087; 24285859; 30005691; 28458902; 31875549 Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM#616026 Review for gene: HNF4A was set to GREEN gene: HNF4A was marked as current diagnostic Added comment: Multiple individuals reported. Sources: Expert list |
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