Genomics England
GMS Panels
Panels
Genes and Entities

RNU12

RNA, U12 small nuclear
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116
Green
in Rare genetic inflammatory skin disorders
R-numbers: R332
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
porokeratosis, erythematous cutaneous eruption