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| Renal tubulopathies v1.126 | HNF1B | Eleanor Williams Classified gene: HNF1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.126 | HNF1B | Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as many cases reported in OMIM associated with Renal cysts and diabetes syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.126 | HNF1B | Eleanor Williams Gene: hnf1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.125 | HNF1B | Eleanor Williams Publications for gene: HNF1B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.124 | HNF1B | Eleanor Williams Mode of inheritance for gene: HNF1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.123 | HNF1B |
Eleanor Williams changed review comment from: Associated with Renal cysts and diabetes syndrome #137920 in OMIM. Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome.; to: Associated with Renal cysts and diabetes syndrome #137920 in OMIM. Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome. Also PMID: 19389850 - Adalat et al 2009- report an index case of a 13 year old boy with renal malformation who presented with tetany and hypomagnesemia. He was found to have a heterozygous HNF1B deletion as did his sister and father who also were found to have cystic kidneys. The sister and brother had hypocalciuria, while the father had hypomagnesemia. Of 91 futher patients with renal malformations in which HNF1B was screened, 21 (23%) had a heterozygous HNF1B mutation. 12 cases had a heterozygous HNF1B deletion c.1_1674del; p.Met1_Trp557del from 10 different families. 9 patients from 8 different families had heterozygous mutations detected by direct sequencing; 3 cases had frame shift mutations, 5 cases from 4 families had splice-site mutations and 1 with a missense mutation. 44% (eight of 18) mut+ patients had hypomagnesemia versus 2% (one of 48) mut− patients. |
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| Renal tubulopathies v1.82 | HNF1B |
Eleanor Williams commented on gene: HNF1B: Associated with Renal cysts and diabetes syndrome #137920 in OMIM. Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome. |
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| Renal tubulopathies v1.45 | HNF1B | Eleanor Williams Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.16 | HNF1B | Eleanor Williams reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM 137920, Diabetes mellitus, noninsulin-dependent, MIM 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal tubulopathies v1.15 | HNF1B |
Eleanor Williams gene: HNF1B was added gene: HNF1B was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: HNF1B was set to |
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