| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary isolated diabetes insipidus v1.4 | AQP2 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: AQP2. Tag Q4_23_NHS_review was removed from gene: AQP2. |
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| Hereditary isolated diabetes insipidus v1.4 | AQP2 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP2 | Achchuthan Shanmugasundram commented on gene: AQP2: The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.3 | AQP2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AQP2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Hereditary isolated diabetes insipidus v1.2 | AQP2 |
Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: AQP2. Tag Q4_23_NHS_review tag was added to gene: AQP2. |
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| Hereditary isolated diabetes insipidus v1.2 | AQP2 |
Achchuthan Shanmugasundram gene: AQP2 was added gene: AQP2 was added to Neuropophyseal diabetes insipidus. Sources: NHS GMS Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, OMIM:125800 Review for gene: AQP2 was set to GREEN Added comment: AQP2 has been added to the panel for R440 Neuropophyseal diabetes insipidus with a green rating as agreed with the NHS Genomic Medicine Service. Sources: NHS GMS |
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