This gene panel contains genetic causes of diabetes insipidus, and was developed by the RMH Endocrine Genetics clinic.
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
| List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Green List (high evidence) |
AQP2 |
2 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
AVP |
2 reviews2 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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| Green List (high evidence) |
AVPR2 |
2 reviews2 green |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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2021-03-01 01:21 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
All genes reviewed, promote to v1.0