| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary isolated diabetes insipidus v2.1 | Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2023-12-20 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v2.0 | Achchuthan Shanmugasundram promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.9 | Eleanor Williams List of related panels changed from R440; Neuropophyseal diabetes insipidus to Neuropophyseal diabetes insipidus; R440 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.7 |
Achchuthan Shanmugasundram Panel name changed from Neuropophyseal diabetes insipidus to Hereditary isolated diabetes insipidus List of related panels changed from R440 to R440; Neuropophyseal diabetes insipidus |
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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 | 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 v1.4 | 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 | 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 v1.3 | 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 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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| Hereditary isolated diabetes insipidus v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.4 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.3 | AVPR2 | Sarah Leigh changed review comment from: The rating of this gene has been updated toGreen and the mode of inheritance set toX-LINKED: hemizygous mutation in males, biallelic mutations in femalesfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females, following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.3 | AVP | 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 v0.3 | 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 v0.3 | Sarah Leigh List of related panels changed from to R440 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.2 | AVPR2 | Sarah Leigh reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary isolated diabetes insipidus v0.2 | AVP | Sarah Leigh reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | AVPR2 |
Sarah Leigh gene: AVPR2 was added gene: AVPR2 was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Hereditary isolated diabetes insipidus v0.1 | AVP |
Sarah Leigh gene: AVP was added gene: AVP was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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| 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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| Hereditary isolated diabetes insipidus v0.0 |
Sarah Leigh Added Panel Neuropophyseal diabetes insipidus Set panel types to: GMS Rare Disease |
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