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Mendeliome

Gene: INPP5K

Green List (high evidence)

INPP5K (inositol polyphosphate-5-phosphatase K)
EnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50thr is a Pakistani/Bangladeshi founder
Created: 10 Jan 2022, 4:32 a.m. | Last Modified: 10 Jan 2022, 5:27 a.m.
Panel Version: 0.10573

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
OMIM
607875
Clinvar variants
Variants in INPP5K
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inpp5k has been classified as Green List (High Evidence).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INPP5K were set to

13 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPP5K was added gene: INPP5K was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: INPP5K was set to Unknown