Genomics England
GMS Panels
Panels
Genes and Entities

LTBP4

latent transforming growth factor beta binding protein 4
OMIM: 604710
PanelMode of inheritanceDetails
2 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IC, OMIM:613177
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IC 613177