Activity
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13 actions
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| Monogenic diabetes v3.17 | SLC19A2 | Ida Ertmanska Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME to Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270; diabetes mellitus, MONDO:0005015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.16 | SLC19A2 | Ida Ertmanska Publications for gene: SLC19A2 were set to 26549656; 26839896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.15 | SLC19A2 |
Ida Ertmanska Tag curated_removed was removed from gene: SLC19A2. Tag Q1_26_promote_green tag was added to gene: SLC19A2. Tag Q1_26_NHS_review tag was added to gene: SLC19A2. |
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| Monogenic diabetes v3.15 | SLC19A2 | Ida Ertmanska Classified gene: SLC19A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.15 | SLC19A2 | Ida Ertmanska Added comment: Comment on list classification: As reviewed by Kevin Colclough, patients with biallelic SLC19A2 variants are often diagnosed with diabetes after 9 months of age, which is in scope of this panel. Hence, SLC19A2 should be promoted to Green for Monogenic diabetes at the next update, with MOI set to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.15 | SLC19A2 | Ida Ertmanska Gene: slc19a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.14 | SLC19A2 | Ida Ertmanska reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270, diabetes mellitus, MONDO:0005015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v3.10 | SLC19A2 | Kevin Colclough reviewed gene: SLC19A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33571483, 39025920, 20301459, 10391221, 38932873; Phenotypes: Diabetes, megaloblastic anaemia, sensorineural hearing loss, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v2.4 | SLC19A2 | Arina Puzriakova Tag curated_removed tag was added to gene: SLC19A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.12 | SLC19A2 |
Ivone Leong Source Expert Review Removed was added to SLC19A2. Rating Changed from Green List (high evidence) to No List (delete) |
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| Monogenic diabetes v0.11 | SLC19A2 | Ivone Leong reviewed gene: SLC19A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic diabetes v0.2 | SLC19A2 |
Ellen McDonagh Added phenotypes Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME for gene: SLC19A2 Publications for gene SLC19A2 were changed from Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 to 26549656; 26839896 |
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| Monogenic diabetes v0.2 | SLC19A2 |
Ellen McDonagh gene: SLC19A2 was added gene: SLC19A2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC19A2 were set to Shaw-Smith et al 2012 Pediatr Diabetes 13:314-321; 26839896; 26549656 Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome; MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS ROGERS SYNDROME |
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