Congenital muscular dystrophy
Gene: MICU1
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
Myopathy with extrapyramidal signs, 615673
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to expert review. It is a confirmed DD gene for MYOPATHY WITH EXTRAPYRAMIDAL SIGNS. Two variants reported (one in 5 Pakistani families, the other in 2 Dutch families).Created: 6 Jan 2017, 9:40 a.m.
Phenotypes
myopathy with extrapyramidal signs
Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs to Myopathy with extrapyramidal signs, 615673
Publications for gene MICU1 were changed from to 24336167
Source NHS GMS was added to MICU1.
Source London South GLH was added to MICU1. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MICU1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This proposed gene was validated and added to this panel
MICU1 was added to Congenital muscular dystrophypanel. Sources: Expert Review
MICU1 was created by eclement