There is currently no eligibility statement for this disorder.
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
emma baple (Genomics England Curator)
Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Olivia Niblock (Genomics England Curator)
Group: Other
Workplace: Other
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
AQP2 |
3 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
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Green List (high evidence) |
AVPR2 |
2 reviews2 green |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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Red List (low evidence) |
AVP |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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Red List (low evidence) |
SLC12A1 |
3 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Red List (low evidence) |
WFS1 |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
Ready for use in tiering