TTC7A
Chr 2ARtetratricopeptide repeat domain 7A
Also known as: GIDID, MINAT, TTC7
The protein localizes phosphatidylinositol 4-kinase to the plasma membrane and regulates phosphatidylinositol 4-phosphate synthesis, which is essential for intestinal development. Mutations cause gastrointestinal defects and immunodeficiency syndrome, characterized by early onset inflammatory bowel disease and intestinal atresia. The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 9 | 0 | 15 | 0 | 24 |
Likely Pathogenic | 8 | 1 | 3 | 0 | 12 |
VUS | 1 | 162 | 7 | 0 | 170 |
Likely Benign | 1 | 6 | 126 | 124 | 257 |
Benign | 0 | 0 | 6 | 0 | 6 |
| Total | 19 | 169 | 157 | 124 | 469 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TTC7A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools