CABP2:Ensemblv90

calcium binding protein 2
OMIM: 607314, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green CABP2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899

Green CABP2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899

Green CABP2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.84

1 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 93, MIM# 614899

Green CABP2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899

Green CABP2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899
Tags
  • deafness

Green CABP2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899

Green CABP2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899

Green CABP2 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 93, MIM# 614899
Tags
  • deafness