CABP4

calcium binding protein 4
OMIM: 608965, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red CABP4 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.47

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green CABP4 in Retinal disorders


Level 2: Ophthalmology
Version 8.100
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Cone-rod synaptic disorder, congenital nonprogressive
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
Red CABP4 in Structural eye disease


Level 2: Ophthalmology
Version 4.40
Latest signed off version: v4.0 (7 Aug 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427
  • Eye Disorders