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| Monogenic diabetes v2.37 | TRMT10A |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies;young onset diabetes, short stature and microcephaly with intellectual disability;Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability;Microcephaly, short stature, and impaired glucose metabolism 1, 616033 |
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| Monogenic diabetes v2.37 | TRMT10A | Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.17 | HNF1B |
Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes: Transient neonatal diabetes;Renal Cysts and Diabetes Syndrome;Diabetes mellitus, noninsulin-dependent, 125853;Maturity-Onset Diabetes Of The Young;RCAD;renal malformation;{Renal cell carcinoma}, 144700;Renal cysts and diabetes syndrome, 137920;RENAL CYSTS AND DIABETES SYNDROME |
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| Monogenic diabetes v2.17 | HNF1B | Ivone Leong Phenotypes for gene: HNF1B were changed from Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME to transient neonatal diabetes mellitus (disease), MONDO:0020525; Type 2 diabetes mellitus, OMIM:125853; maturity-onset diabetes of the young (disease), MONDO:0018911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.15 | HNF1A |
Ivone Leong Added comment: Comment on phenotypes: Phenotypes were previous: Hepatic adenoma, somatic, 142330;Maturity-Onset Diabetes Of The Young;{Diabetes mellitus, insulin-dependent}, 222100;Renal cell carcinoma, 144700;MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520;Diabetes mellitus, insulin-dependent, 20, 612520;MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3;MODY3;Maturity-onset diabetes of the young (MODY);{Diabetes mellitus, noninsulin-dependent, 2}, 125853;MODY, type III, 600496;Maturity Onset Diabetes of the Young |
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| Monogenic diabetes v2.15 | HNF1A | Ivone Leong Phenotypes for gene: HNF1A were changed from Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.7 | CEL | Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction to Maturity-onset diabetes of the young, type VIII, OMIM:609812; Diabetes and pancreatic exocrine dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v1.37 | TRMT10A | Ivone Leong Phenotypes for gene: TRMT10A were changed from failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability to failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v1.18 | CEL | Ivone Leong Phenotypes for gene: CEL were changed from Maturity-onset diabetes of the young, type VIII, 609812 to Maturity-onset diabetes of the young, type VIII, 609812; Diabetes and pancreatic exocrine dysfunction | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v1.6 | CEL | Ivone Leong Publications for gene: CEL were set to 16369531 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v1.1 | CEL | Jayne Houghton reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 27650499, 25160620; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.16 | CEL | Ivone Leong Classified gene: CEL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.16 | CEL | Ivone Leong Added comment: Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.16 | CEL | Ivone Leong Gene: cel has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.8 | CEL | Ivone Leong reviewed gene: CEL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.7 | CEL | Ivone Leong Source NHS GMS was added to CEL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | HNF1B | Ellen McDonagh Added phenotypes Transient neonatal diabetes; Renal Cysts and Diabetes Syndrome; Diabetes mellitus, noninsulin-dependent, 125853; Maturity-Onset Diabetes Of The Young; RCAD; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; RENAL CYSTS AND DIABETES SYNDROME for gene: HNF1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | HNF1A | Ellen McDonagh Added phenotypes Hepatic adenoma, somatic, 142330; Maturity-Onset Diabetes Of The Young; {Diabetes mellitus, insulin-dependent}, 222100; Renal cell carcinoma, 144700; Diabetes mellitus, insulin-dependent, 20, 612520; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3; Maturity-onset diabetes of the young (MODY); {Diabetes mellitus, noninsulin-dependent, 2}, 125853; MODY, type III, 600496; Maturity Onset Diabetes of the Young for gene: HNF1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | HNF1A |
Ellen McDonagh gene: HNF1A was added gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520; Maturity Onset Diabetes of the Young |
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| Monogenic diabetes v0.2 | TRMT10A | Ellen McDonagh Added phenotypes failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability for gene: TRMT10A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | TRMT10A |
Ellen McDonagh gene: TRMT10A was added gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 26297882; 24204302 Phenotypes for gene: TRMT10A were set to failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability |
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| Monogenic diabetes v0.2 | MNX1 | Ellen McDonagh Publications for gene MNX1 were changed from 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984 to 24411943; 23562494; 26534984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | MNX1 |
Ellen McDonagh gene: MNX1 was added gene: MNX1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNX1 were set to 24411943; Flanagan et al 2014 Cell Metab 19:146-154; 23562494; 26534984 |
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| Monogenic diabetes v0.2 | CEL |
Ellen McDonagh Added phenotypes Maturity-onset diabetes of the young, type VIII, 609812 for gene: CEL Publications for gene CEL were changed from PMID: 16369531 to 16369531 |
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| Monogenic diabetes v0.2 | CEL |
Ellen McDonagh gene: CEL was added gene: CEL was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEL were set to PMID: 16369531 Phenotypes for gene: CEL were set to Maturity-onset diabetes of the young, type VIII, 609812 |
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