Genomics England
GMS Panels
Panels
Genes and Entities
ASPRV1
aspartic peptidase retroviral like 1
OMIM:
611765
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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in
Ichthyosis and erythrokeratoderma
R-numbers:
R165
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyosis, lamellar, autosomal dominant, OMIM:146750