sterol regulatory element binding transcription factor 2
OMIM: 600481, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red SREBF2 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Unknown
  • Literature
  • Familial Hypercholesterolaemia
Red SREBF2 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
  • Expert Review Red
Red SREBF2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    • Expert Review Red