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  3. PPIP5K2
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Deafness_Isolated

Gene: PPIP5K2

Amber List (moderate evidence)
PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000145725
EnsemblGeneIds (GRCh37): ENSG00000145725
OMIM: 611648, Gene2Phenotype
PPIP5K2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Created: 1 Jan 2020, 4:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 100, MIM# 618422

Publications

Created: 1 Jan 2020, 4:51 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.158

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert list
Phenotypes
  • Deafness, autosomal recessive 100, MIM# 618422
OMIM
611648
Clinvar variants
Variants in PPIP5K2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppip5k2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPIP5K2 was added gene: PPIP5K2 was added to DeafnessIsolated. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: PPIP5K2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIP5K2 were set to 29590114 Phenotypes for gene: PPIP5K2 were set to Deafness, autosomal recessive 100, MIM# 618422