BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: MICU1

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 9 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy with extrapyramidal signs, 615673

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

Created: 7 Feb 2017, 4:35 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Myopathy with extrapyramidal signs, 615673

OMIM

605084

Clinvar variants

Variants in MICU1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MICU1 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source