Activity
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13 actions
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| Monogenic Diabetes v0.76 | TRMT10A | Zornitza Stark Phenotypes for gene: TRMT10A were changed from Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 to Microcephaly, short stature, and impaired glucose metabolism 1, 616033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.58 | HNF1B | Zornitza Stark Phenotypes for gene: HNF1B were changed from RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700 to renal cysts and diabetes syndrome MONDO:0007669 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.22 | EPHX1 |
Zornitza Stark gene: EPHX1 was added gene: EPHX1 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHX1 were set to 34342583 Phenotypes for gene: EPHX1 were set to Lipoatrophic diabetes Review for gene: EPHX1 was set to AMBER Added comment: Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts. Sources: Literature |
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| Monogenic Diabetes v0.4 | CEL | Zornitza Stark Marked gene: CEL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.4 | CEL | Zornitza Stark Added comment: Comment when marking as ready: Agree, only frameshift mutations in the VNTR-containing exon 11 have evidence for pathogenicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.4 | CEL | Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.4 | CEL | Zornitza Stark Classified gene: CEL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.4 | CEL | Zornitza Stark Gene: cel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.3 | CEL | Elena Savva reviewed gene: CEL: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24062244, 21784842, 19760265, 18544793, 17989309, 16369531, 29233499, 27650499; Phenotypes: Maturity-onset diabetes of the young, type VIII; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.0 | TRMT10A |
Zornitza Stark gene: TRMT10A was added gene: TRMT10A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS 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 Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability; failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies; young onset diabetes, short stature and microcephaly with intellectual disability; Microcephaly, short stature, and impaired glucose metabolism 1, 616033 |
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| Monogenic Diabetes v0.0 | HNF1B |
Zornitza Stark gene: HNF1B was added gene: HNF1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome; Renal cysts and diabetes syndrome, 137920; Transient neonatal diabetes; RCAD; {Renal cell carcinoma}, 144700 |
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| Monogenic Diabetes v0.0 | HNF1A |
Zornitza Stark gene: HNF1A was added gene: HNF1A was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1A were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; Maturity-Onset Diabetes Of The Young; MODY, type III, 600496; Maturity-onset diabetes of the young (MODY); 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, noninsulin-dependent, 2}, 125853; Diabetes mellitus, insulin-dependent, 20, 612520; {Diabetes mellitus, insulin-dependent}, 222100; Maturity Onset Diabetes of the Young; MODY3 |
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| Monogenic Diabetes v0.0 | CEL |
Zornitza Stark gene: CEL was added gene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620 Phenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812 |
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