Genomics England
GMS Panels
Panels
Genes and Entities

STX3

syntaxin 3
OMIM: 600876
PanelMode of inheritanceDetails
2 panels
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 12, with microvillus atrophy, OMIM:619445, Retinal dystrophy and microvillus inclusion disease, OMIM:619446
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy and microvillus inclusion disease, OMIM:619446