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Hearing loss

Gene: PPIP5K2

No list

PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000145725
EnsemblGeneIds (GRCh37): ENSG00000145725
OMIM: 611648, Gene2Phenotype
PPIP5K2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

I don't know

Two apparently unrelated families with multiple affecteds segregating a homozygous missense variant; mouse model.
Sources: Expert list
Created: 2 Jan 2020, 5:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 100, MIM#618422

Publications

Details

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

History Filter Activity

2 Jan 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PPIP5K2 was added gene: PPIP5K2 was added to Hearing loss. Sources: 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 Review for gene: PPIP5K2 was set to AMBER