CABP4

calcium binding protein 4
OMIM: 608965, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CABP4 in Mendeliome


Version 2.0

1 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 1.0

1 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 1.0

0 reviews 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 2.0

1 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 3.0

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