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| 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 v0.2 | 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 v0.1 | 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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