ADAMTSL4

ADAMTS like 4
OMIM: 610113, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ADAMTSL4 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.12

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis et pupillae, AR (MIM#225200)
  • Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347)

Red ADAMTSL4 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ectopia lentis
  • cataract

Green ADAMTSL4 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis et pupillae MIM#225200
  • Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related

Green ADAMTSL4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ectopia lentis, isolated, autosomal recessive, MIM# 225100
Tags
  • founder