Genomics England
GMS Panels
Panels
Genes and Entities

SIX6

SIX homeobox 6
OMIM: 606326
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microphthalmia with cataract 2, 212550, Anophthalmia/Microphthalmia, Optic disc anomalies with retinal and/or macular dystrophy, 212550