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  3. ECSIT
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Mitochondrial disorder with complex I deficiency

Gene: ECSIT

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Demoted from Green to Red after discussion on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019.
Created: 25 Feb 2019, 4:50 p.m.
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, 4:49 p.m.
Created: 25 Feb 2019, 4:49 p.m.

Panel version: 0.7

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ECSIT; Suggested intial gene rating: Green.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 1 Feb 2019, 4:29 p.m.

Panel version: 0.3

Shamima Rahman (UCL Institute of Child Health)

I don't know

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

Panel version: Imported from Mitochondrial disorders panel version 0.16

History Filter Activity

25 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ecsit has been classified as Red List (Low Evidence).

25 Feb 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ecsit has been classified as Red List (Low Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ECSIT was added gene: ECSIT was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ECSIT was set to Unknown Phenotypes for gene: ECSIT were set to No OMIM phenotype