| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been updated from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: AQP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram Tag Q4_23_NHS_review was removed from gene: AQP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been demoted from green to grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been demoted from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram changed review comment from: This gene should be demoted from green to grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.; to: The rating of this gene has been demoted from green to grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.4 | AQP1 | Achchuthan Shanmugasundram edited their review of gene: AQP1: Added comment: The rating of this gene has been updated to Grey following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.3 | AQP1 |
Achchuthan Shanmugasundram Source Expert Review Removed was added to AQP1. Rating Changed from Green List (high evidence) to No List (delete) |
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| Hereditary isolated diabetes insipidus v1.2 | AQP1 | Achchuthan Shanmugasundram Tag Q4_23_NHS_review tag was added to gene: AQP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.2 | AQP1 | Achchuthan Shanmugasundram commented on gene: AQP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.3 | AQP1 | Sarah Leigh changed review comment from: The rating of this gene has been updated toGreen and the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.2 | AQP1 | Sarah Leigh reviewed gene: AQP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.1 | AQP1 |
Sarah Leigh gene: AQP1 was added gene: AQP1 was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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