Arthrogryposis
Gene: ISCU
ISCU (iron-sulfur cluster assembly enzyme)
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000136003
EnsemblGeneIds (GRCh37): ENSG00000136003
OMIM: 611911, Gene2Phenotype
ISCU is in 9 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No known association with arthrogryposisCreated: 5 Jan 2017, 9:39 a.m.
Details
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Myopathy with lactic acidosis, hereditary, 255125
- OMIM
- 611911
- Clinvar variants
- Variants in ISCU
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Congenital myopathy
- Arthrogryposis
- Undiagnosed metabolic disorders
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)ISCU was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ISCU was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ISCU was added to Arthrogryposispanel. Sources: Expert list