Activity
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18 actions
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| Neonatal diabetes - small panel v1.5 | KCNJ11 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #610582 & #618856) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.5 | KCNJ11 | Achchuthan Shanmugasundram Phenotypes for gene: KCNJ11 were changed from to Diabetes mellitus, transient neonatal 3, OMIM:610582; Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856; diabetes mellitus, transient neonatal, 3, MONDO:0012522; diabetes mellitus, permanent neonatal 2, MONDO:0030087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.4 | ABCC8 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #618857 & #610374) and the OMIM records were last accessed on 29 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.4 | ABCC8 | Achchuthan Shanmugasundram Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, permanent neonatal 3, OMIM:618857; Diabetes mellitus, transient neonatal 2, OMIM:610374; diabetes mellitus, permanent neonatal 3, MONDO:0030088; diabetes mellitus, transient neonatal, 2, MONDO:0012480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.3 | Achchuthan Shanmugasundram Panel version 1.2 has been signed off on 2023-09-26 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.2 | KCNJ11 | Achchuthan Shanmugasundram changed review comment from: KCNJ11 has been added to the panel for R143 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.; to: KCNJ11 has been added to the panel for R143.1 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.2 | ABCC8 | Achchuthan Shanmugasundram changed review comment from: ABCC8 has been added to the panel for R143 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.; to: ABCC8 has been added to the panel for R143.1 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.2 | Achchuthan Shanmugasundram List of related panels changed from R143; Neonatal diabetes to R143.1; Neonatal diabetes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.1 | Sarah Leigh Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v1.0 | Sarah Leigh promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v0.4 | Sarah Leigh Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v0.3 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v0.2 | Achchuthan Shanmugasundram List of related panels changed from R143 to R143; Neonatal diabetes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v0.1 | KCNJ11 | Achchuthan Shanmugasundram reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v0.1 | ABCC8 | Achchuthan Shanmugasundram reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neonatal diabetes - small panel v0.1 | KCNJ11 |
Achchuthan Shanmugasundram gene: KCNJ11 was added gene: KCNJ11 was added to Neonatal diabetes - small panel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| Neonatal diabetes - small panel v0.1 | ABCC8 |
Achchuthan Shanmugasundram gene: ABCC8 was added gene: ABCC8 was added to Neonatal diabetes - small panel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Neonatal diabetes - small panel v0.0 |
Achchuthan Shanmugasundram Added Panel Neonatal diabetes - small panel Set list of related panels to R143 Set panel types to: GMS Rare Disease |
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