TTC37

tetratricopeptide repeat domain 37
OMIM: 614589, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green TTC37 in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 1 222470
Tags
  • new-gene-name
Green TTC37 in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470
  • Early Onset Inflammatory Bowel Disease
  • Inflammatory Bowel Disease (Very Early Onset)
  • Trichohepatoenteric syndrome 1 222470
Tags
  • new-gene-name
Green TTC37 in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • A- or hypo-gammaglobulinaemia v1.25
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
  • Trichohepatoenteric syndrome 1, 222470
  • Intrauterine growth retardation, woolly hair
  • intractable diarrhoea in infancy requiring total parenteral nutrition
  • Hypogammaglobulinaemia
  • Predominantly Antibody Deficiencies
  • facial dysmorphism
  • immune dysfunction
  • Trichohepatoenteric syndrome
Tags
  • new-gene-name
Green TTC37 in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Trichohepatoenteric syndrome 1, OMM:222470
Tags
  • new-gene-name
Green TTC37 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • A- or hypo-gammaglobulinaemia v1.25
Phenotypes
  • Trichohepatoenteric syndrome 1, 222470
  • Intrauterine growth retardation, woolly hair
  • facial dysmorphism
  • intractable diarrhoea in infancy requiring total parenteral nutrition
  • Hypogammaglobulinaemia
  • Trichohepatoenteric syndrome
  • immune dysfunction
  • Recurrent bacterial and viral infections, Abnormal hair findings: trichorrhexis nodosa
  • Predominantly Antibody Deficiencies
Tags
  • early-onset
  • new-gene-name
Green TTC37 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichohepatoenteric syndrome 1 (Other metabolic disorders)
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
  • new-gene-name
Green TTC37 in Likely inborn error of metabolism - targeted testing not possible


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Infantile enterocolitis & monogenic inflammatory bowel disease
    • Trichohepatoenteric syndrome 1 (Other metabolic disorders)
    Tags
    • new-gene-name
    Green TTC37 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRICHOHEPATOENTERIC SYNDROME
    Tags
    • new-gene-name
    Green TTC37 in DDG2P


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRICHOHEPATOENTERIC SYNDROME 222470
    Tags
    • new-gene-name
    Green TTC37 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Trichohepatoenteric syndrome 1, 222470
    Tags
    • new-gene-name
    Red TTC37 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green TTC37 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichohepatoenteric syndrome 1, 222470
    Tags
    • new-gene-name