TTC7A

tetratricopeptide repeat domain 7A
OMIM: 609332, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TTC7A in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150
  • Very Early Onset Inflammatory Bowel Disease (VEOIBD)

Green TTC7A in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150

Green TTC7A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)

Green TTC7A in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Immunodeficiency, combined, with intestinal atresias

Green TTC7A in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, MIM# 243150

Green TTC7A in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome MIM#243150

Green TTC7A in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)