1. Genes and Genomic Entities
  2. ECSIT

ECSIT

ECSIT signalling integrator
OMIM: 608388, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red ECSIT in Mitochondrial disorder with complex I deficiency


Level 2: Mitochondrial
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Red ECSIT in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.103
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Unknown
    Sources
    • Expert Review Red
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    • Isolated complex I deficiency
    Red ECSIT in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review Unknown
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    Red ECSIT in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.14

    		review Not set
    Sources
    • Literature
    Phenotypes
    • anorectal malformation
    Red ECSIT in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Isolated complex I deficiency
    • No OMIM phenotype