LTBP4

latent transforming growth factor beta binding protein 4
OMIM: 604710, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red LTBP4 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.32

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease
Red LTBP4 in Pneumothorax - familial


Level 2: Respiratory
Version 3.6
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cutis laxa
Green LTBP4 in Ehlers Danlos syndrome with a likely monogenic cause


Level 2: Musculoskeletal
Version 4.6
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IC, OMIM:613177
Green LTBP4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE Additional Gene List
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IC 613177