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  2. Congenital muscular dystrophy and congenital myopathy
  3. INPP5K
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: INPP5K

Green List (high evidence)
INPP5K (inositol polyphosphate-5-phosphatase K)
EnsemblGeneIds (GRCh38): ENSG00000132376
EnsemblGeneIds (GRCh37): ENSG00000132376
OMIM: 607875, Gene2Phenotype
INPP5K is in 5 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.
Created: 29 Apr 2019, 3:37 p.m.

Copied from panel: Congenital muscular dystrophy v3.57

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

Created: 29 Apr 2019, 3:27 p.m.

Copied from panel: Congenital muscular dystrophy v3.57

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

Created: 20 Feb 2017, 12:11 p.m.

Copied from panel: Congenital muscular dystrophy v3.57

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Literature
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
OMIM
607875
Clinvar variants
Variants in INPP5K
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: INPP5K was added gene: INPP5K was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Green,Literature,London South GLH Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INPP5K were set to 28190459; 28190456 Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 Penetrance for gene: INPP5K were set to Complete