Genomics England
GMS Panels
Panels
Genes and Entities

UBAP1L

ubiquitin associated protein 1 like
PanelMode of inheritanceDetails
1 panel
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy, Zeitz-Han type, OMIM:621558, Rod-cone dystrophy, HP:0000510, cone-rod dystrophy, MONDO:0015993, retinitis pigmentosa, MONDO:0019200