PPIP5K2:Ensemblv90

diphosphoinositol pentakisphosphate kinase 2
OMIM: 611648, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber PPIP5K2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 100, MIM# 618422

Amber PPIP5K2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 100, MIM# 618422

Amber PPIP5K2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.84

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 100, MIM# 618422

Amber PPIP5K2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 100, MIM# 618422

Amber PPIP5K2 in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert list
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 100, MIM# 618422