Congenital muscular dystrophy

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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was added to this panel due to new publications reporting missense variants in 13 families (PMID: 28190459; 28190456).
Created: 20 Feb 2017, 12:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Muscular Dystrophy Overlapping Marinesco-Sjo ̈gren 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

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to INPP5K.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to INPP5K. Rating Changed from Green List (high evidence) to Green List (high evidence)

20 Feb 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for INPP5K were set to Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

20 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).

20 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

INPP5K was added to Congenital muscular dystrophypanel. Sources: Literature

20 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

INPP5K was created by ellenmcdonagh