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Cataracts

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was added to this panel due to new publications reporting missense variants in 13 families, with function evidence for a damaging effect (PMID: 28190459; 28190456). Confirmed with Sarah Waller (Manchester Centre for Genomic Medicine) that this should be green on the cataracts panel.
Created: 23 Feb 2017, 2:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
OMIM
607875
Clinvar variants
Variants in INPP5K
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

23 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

INPP5K was added to Cataractspanel. Sources: Literature

23 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

INPP5K was created by ellenmcdonagh