Genomics England
GMS Panels
Panels
Genes and Entities
RIN2
Ras and Rab interactor 2
OMIM:
610222
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Panel
Mode of inheritance
Details
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in
Ehlers Danlos syndrome with a likely monogenic cause
R-numbers:
R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075