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Arthrogryposis

Gene: MICU1

Red List (low evidence)

MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 10 panels

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: Not associated with arthrogryposis
Created: 5 Jan 2017, 9:51 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
myopathy with extrapyramidal signs

Details

Sources
  • Expert Review Red
  • Expert Review
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy with extrapyramidal signs, 615673 (3)
  • myopathy with extrapyramidal signs
OMIM
605084
Clinvar variants
Variants in MICU1
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

5 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MICU1 was added to Arthrogryposispanel. Source: Expert Review

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MICU1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MICU1 was created by ellenmcdonagh