Genomics England
GMS Panels
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Genes and Entities
STAB1
stabilin 1
OMIM:
608560
See this entity in PanelApp
Panel
Mode of inheritance
Details
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Green
in
Iron metabolism disorders - NOT common HFE mutations
R-numbers:
R96
Signed-off version 2.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperferritinemia without iron overload