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Fetal anomalies

Gene: INPP5K

Amber List (moderate 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)

I don't know

At least 20 probands reported thus far.
Noted that Val23Met is an Italian founder mutation and Ile50Thr is a Pakistani/Bangladeshi founder

Onset of cataracts ~2-4 years
low birth weight reported in 1 family
microcephaly and short stature also reported but present at birth or acquired is largely unknown
Created: 10 Jan 2022, 6:04 a.m. | Last Modified: 10 Jan 2022, 6:04 a.m.
Panel Version: 0.1933

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 Amber
  • Genomics England PanelApp
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: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: inpp5k has been classified as Amber List (Moderate Evidence).

13 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: INPP5K were set to

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: INPP5K was added gene: INPP5K was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability