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Inborn errors of metabolism

Gene: ECSIT

Red List (low evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: The evidence underlying this gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that this gene should be Red due to insufficient evidence; no cases have yet been reported in the literature and its role is not yet completely understood.
Created: 25 Feb 2019, 4:53 p.m.

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature
Created: 4 Feb 2016, 2:23 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • 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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 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 Inborn errors of metabolism. 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