Genomics England
GMS Panels
Panels
Genes and Entities
FAM57B
family with sequence similarity 57 member B
OMIM:
615175
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
Green
in
Retinal disorders
R-numbers:
R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cone-rod dystrophy, MONDO:0015993, Maculopathy