LTBP1

latent transforming growth factor beta binding protein 1
OMIM: 150390, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LTBP1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.85

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451

Green LTBP1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451

Green LTBP1 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451

Green LTBP1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451

Green LTBP1 in Cutis Laxa


Level 2: Dermatological disorders
Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451

Green LTBP1 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE - MIM#619451