CIB2

calcium and integrin binding family member 2
OMIM: 605564, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CIB2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 48, MIM# 609439

Green CIB2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 48, MIM# 609439

Red CIB2 in Usher Syndrome


Level 2: Ophthalmological disorders
Version 1.5

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Usher syndrome, type IJ, 614869
    Tags
    • refuted

    Red CIB2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type IJ, 614869 (3)

    Green CIB2 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Deafness, autosomal recessive 48, MIM# 609439

    Green CIB2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 48, MIM# 609439

    Red CIB2 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Mackenzie's Mission
    Phenotypes
    • Usher syndrome, type IJ, 614869 (3)

    Green CIB2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 48, MIM# 609439
    Tags
    • deafness