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| 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 v1.2 | 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 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 | 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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