TTC7A

Chr 2AR

tetratricopeptide repeat domain 7A

Also known as: GIDID, MINAT, TTC7

NCBI Gene: 57217ENSG00000068724UniProt: Q9ULT0OMIM: 609332

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Gastrointestinal defects and immunodeficiency syndromeMIM #243150
AR

Clinical highlights

Gene-disease validity (ClinGen)
multiple intestinal atresia · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TTC7A
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score -0.05
OE 1.01 (0.80–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.77Z-score
OE missense 1.10 (1.02–1.17)
570 obs / 520.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.80–1.28)
0≤0.351.4
Missense OE?1.10 (1.02–1.17)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 47 / 46.7Missense obs/exp: 570 / 520.3Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients