Congenital muscular dystrophy
Gene: INPP5K
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.
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
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
Phenotypes for gene: INPP5K were changed from Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
Source NHS GMS was added to INPP5K.
Source London South GLH was added to INPP5K. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for INPP5K were set to Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
This gene has been classified as Green List (High Evidence).
INPP5K was added to Congenital muscular dystrophypanel. Sources: Literature
INPP5K was created by ellenmcdonagh