Genomics England
GMS Panels
Panels
Genes and Entities

LTBP1

latent transforming growth factor beta binding protein 1
OMIM: 150390
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LTBP1-related cutis laxa and craniosynostosis
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIE, OMIM:619451, Brachydactyly, HP:0001156, Clinodactyly, HP:0030084, Syndactyly, HP:0001159
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIE, OMIM:619451, craniosynostosis, MONDO:0015469
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
inherited cutis laxa MONDO:0100237, Cutis laxa, autosomal recessive, type IIE, OMIM:619451