LTBP1

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green LTBP1 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 1.101

1 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 1.73

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

Green LTBP1 in Mendeliome


Version 1.3795

1 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 1.497

1 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

1 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 1.481

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