This panel is NO LONGER ACTIVELY MAINTAINED. Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up. Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel. ----- 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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5 Entitiess
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AQP2 |
3 reviews2 green |
BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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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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AVP |
1 review |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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SLC12A1 |
3 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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WFS1 |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Ready for use in tiering