Congenital muscular dystrophy

Gene: MICU1

Green List (high evidence)

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 11 panels

4 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
Myopathy with extrapyramidal signs, 615673

Publications

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

Ellen McDonagh (Genomics England Curator)

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.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
myopathy with extrapyramidal signs

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
OMIM
605084
Clinvar variants
Variants in MICU1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 May 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MICU1 were changed from myopathy with extrapyramidal signs to Myopathy with extrapyramidal signs, 615673

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MICU1 were changed from to 24336167

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MICU1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MICU1. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

6 Jan 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).

6 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for MICU1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jan 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).

19 Dec 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Added New Source

Emma Clement (Great Ormond Street Hospital)

MICU1 was added to Congenital muscular dystrophypanel. Sources: Expert Review

19 Dec 2016, Gel status: 0

Created

Emma Clement (Great Ormond Street Hospital)

MICU1 was created by eclement