CABP4

calcium binding protein 4
OMIM: 608965, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CABP4 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427

Green CABP4 in Congenital Stationary Night Blindness


Level 2: Ophthalmological disorders
Version 0.23

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Night blindness, congenital stationary (incomplete), 2B, autosomal recessive, 610427

    Green CABP4 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)

    Green CABP4 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.21

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427

    Green CABP4 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)