ADAMTSL4

ADAMTS like 4
OMIM: 610113, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red ADAMTSL4 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Ectopia lentis, isolated, autosomal recessive
  • Ectopia lentis et pupillae

Green ADAMTSL4 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.123

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Ectopia lentis et pupillae
  • Ectopia lentis, isolated, autosomal recessive

Red ADAMTSL4 in Craniosynostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

review Not set
Sources
  • NHS GMS
  • Expert Review Red
  • Expert list
Phenotypes
  • Ectopia lentis 225200/225100

Green ADAMTSL4 in Structural eye disease


Version 1.132
Latest signed off version: v1.3 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ectopia lentis et pupillae, 225200
  • Ectopia lentis, isolated, autosomal recessive, 225100