Bilateral congenital or childhood onset cataracts
Gene: INPP5K
INPP5K (inositol polyphosphate-5-phosphatase K)
EnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 5 panels
1 review
Ellen McDonagh (Genomics England Curator)
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