DIABLO:Ensemblv90

diablo IAP-binding mitochondrial protein
OMIM: 605219, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red DIABLO in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 64, MIM# 614152

Amber DIABLO in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 64, MIM# 614152

Amber DIABLO in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.84

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 64, MIM# 614152

Red DIABLO in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal dominant

Red DIABLO in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Deafness, autosomal dominant

Amber DIABLO in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal dominant 64, MIM# 614152

Amber DIABLO in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal dominant 64, MIM# 614152