Genomics England
GMS Panels
Panels
Genes and Entities

LTBP3

latent transforming growth factor beta binding protein 3
OMIM: 602090
PanelMode of inheritanceDetails
4 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dental anomalies and short stature, OMIM:601216, Amelogenesis Imperfecta, syndromic AI with brachyolmia
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Geleophysic dysplasia 3, OMIM:617809, Dental anomalies and short stature, OMIM:610216, geleophysic dysplasia 3, MONDO:0054722,