Arthrogryposis
Gene: MICU1
MICU1 (mitochondrial calcium uptake 1)
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000107745
EnsemblGeneIds (GRCh37): ENSG00000107745
OMIM: 605084, Gene2Phenotype
MICU1 is in 9 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Not associated with arthrogryposisCreated: 5 Jan 2017, 9:51 a.m.
Emma Clement (Great Ormond Street Hospital)
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