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Molecular autopsy

Gene: ECSIT

Red List (low evidence)

ECSIT (ECSIT signalling integrator)
EnsemblGeneIds (GRCh38): ENSG00000130159
EnsemblGeneIds (GRCh37): ENSG00000130159
OMIM: 608388, Gene2Phenotype
ECSIT is in 5 panels

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Isolated complex I deficiency
OMIM
608388
Clinvar variants
Variants in ECSIT
Penetrance
None
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes No OMIM phenotype; Isolated complex I deficiency for gene: ECSIT

20 Dec 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes No OMIM phenotype; Isolated complex I deficiency for gene: ECSIT

20 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ECSIT was added gene: ECSIT was added to Molecular autopsy. Sources: Expert Review Red Mode of inheritance for gene: ECSIT was set to Unknown Phenotypes for gene: ECSIT were set to No OMIM phenotype; Isolated complex I deficiency