TTC7A

tetratricopeptide repeat domain 7A
OMIM: 609332, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TTC7A in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • TTC7A deficiency
  • Epithelial Barrier Dysfunction
  • Gastrointestinal defects and immunodeficiency syndrome 243150

Green TTC7A in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150

Green TTC7A in COVID-19 research


Level 2: Viral research
Version 1.77

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • 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
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Immunodeficiencies with multiple intestinal atresias
  • Combined immunodeficiency
  • Combined immunodeficiency-enteropathy spectrum
  • Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype
  • Combined immunodeficiencies with associated or syndromic features
  • Multiple intestinal atresia and severe combined immunodeficiency

Red TTC7A in Gastrointestinal neuromuscular disorders

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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome 243150

Green TTC7A in Primary immunodeficiency


Version 2.434
Latest signed off version: v2.1 (24 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Multiple intestinal atresia and severe combined immunodeficiency
  • Combined immunodeficiency
  • Immunodeficiencies with multiple intestinal atresias
  • Combined immunodeficiency-enteropathy spectrum
  • Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype
  • Combined immunodeficiencies with associated or syndromic features

Red TTC7A in Non-syndromic familial congenital anorectal malformations

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • anorectal malformation
  • Gastrointestinal defects and immunodeficiency syndrome 243150
  • INTESTINAL ATRESIA, MULTIPLE

Green TTC7A in Fetal anomalies


Version 1.678
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTESTINAL ATRESIA, MULTIPLE

Green TTC7A in DDG2P


Version 2.28
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • INTESTINAL ATRESIA, MULTIPLE 243150

    Red TTC7A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Intestinal atresia, multiple, 243150

    Green TTC7A in Severe Paediatric Disorders


    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Gastrointestinal defects and immunodeficiency syndrome, 243150