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Hearing loss

Gene: PPIP5K2

Amber List (moderate evidence)

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

2 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Promoting this gene from grey to amber. 2 cases (but with same variant, likely founder effect) plus mouse model replicating disease.
Created: 4 Nov 2020, 3:28 p.m. | Last Modified: 4 Nov 2020, 3:28 p.m.
Panel Version: 2.106
Associated with Deafness, autosomal recessive 100 #618422 (AR) in OMIM.

PMID: 29590114 - Yousaf et al 2018 - report 2 large apparently unrelated consanguineous Pakistani families in which a variant in PPIP5K2 (c.2510G>A, p.Arg837His) was found to segregate with DFNB100-associated hearing loss. Subsequent SNP analysis in the flanking region in affected individuals suggest the haplotype is consistent with a founder effect for the identified variant. Expression studies found that PPIP5K2 is expressed in mouse cochlear and vestibular sensory hair cells, supporting cells and spiral ganglion neurons. Mice with a homozygous deletion of the Ppip5k2 phosphatase domain show degeneration of cochlear outer hair cells and elevated hearing thresholds.

A PubMed search does not find any further cases.
Created: 4 Nov 2020, 3:24 p.m. | Last Modified: 4 Nov 2020, 3:24 p.m.
Panel Version: 2.104

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 100, 618422; deafness, autosomal recessive 100 MONDO:0032740

Publications

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
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 100, MIM#618422
  • deafness, autosomal recessive 100 MONDO:0032740
OMIM
611648
Clinvar variants
Variants in PPIP5K2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

4 Nov 2020, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PPIP5K2 were changed from Deafness, autosomal recessive 100, MIM#618422 to Deafness, autosomal recessive 100, MIM#618422; deafness, autosomal recessive 100 MONDO:0032740

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