ADAMTSL4

ADAMTS like 4
OMIM: 610113, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red ADAMTSL4 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0 (22 Mar 2023)

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 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Ectopia lentis et pupillae
  • Ectopia lentis, isolated, autosomal recessive
Green ADAMTSL4 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.177
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Ectopia lentis 225200/225100
  • craniosynostosis with ectopia lentis, MONDO:0011347
Green ADAMTSL4 in Structural eye disease


Version 3.74
Latest signed off version: v3.0 (22 Mar 2023)

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