TTC7A Chromosome 2
Tetratricopeptide repeat domain 7A
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What This Gene Does
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]
Gene Info
Gene Group
"Tetratricopeptide repeat domain containing|PI4KA lipid kinase complex"
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000068724
Associated Conditions (12)
Multiple gastrointestinal atresias
Gastrointestinal defects and immunodeficiency syndrome 1
Inborn genetic diseases
TTC7A-related disorder
Thyroid cancer
nonmedullary
1
Common variable immunodeficiency
Gastrointestinal defect and immunodeficiency syndrome
See cases
Severe combined immunodeficiency disease
Uterine corpus endometrial carcinoma
Key Variants
RS112301354
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
Health Risk
RS115479276
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Inborn genetic diseases, Multiple gastrointestinal atresias
Health Risk
RS1283566399
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
Health Risk
RS139010200
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, TTC7A-related disorder
Health Risk
RS143184428
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Inborn genetic diseases, Thyroid cancer
Health Risk
RS143506259
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Inborn genetic diseases, Multiple gastrointestinal atresias
Health Risk
RS144971707
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
Health Risk
RS146284515
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Inborn genetic diseases
Health Risk
RS147471840
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
Health Risk
RS147621000
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
Health Risk
RS148347796
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
Health Risk
RS149602485
Conflicting classifications of pathogenicity
Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, TTC7A-related disorder
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1682321195 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS201481224 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2104231304 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2104485613 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2465432479 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2465432583 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2466129998 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2466284122 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2466731626 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2467088466 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS587776971 | Health Risk | Pathogenic | TTC7A-related disorder, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS587777547 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS587777548 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS587777549 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS587777550 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS587777551 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS751311194 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS762504554 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS766411601 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS777469885 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS778271393 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS786205698 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS876657392 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS886037746 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS886037747 | Health Risk | Pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS886042805 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS886042806 | Health Risk | Pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS1297794582 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS1476031758 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS147914967 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defect and immunodeficiency syndrome, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS1558551117 | Health Risk | Pathogenic/Likely pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS1558568116 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Multiple gastrointestinal atresias |
| RS2467087753 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Gastrointestinal defects and immunodeficiency syndrome 1, Severe combined immunodeficiency disease |
| RS568082272 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS587776972 | Health Risk | Pathogenic/Likely pathogenic | Gastrointestinal defect and immunodeficiency syndrome, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS762466884 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defect and immunodeficiency syndrome, Multiple gastrointestinal atresias |
| RS762685822 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS765653721 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS767965414 | Health Risk | Pathogenic/Likely pathogenic | Gastrointestinal defect and immunodeficiency syndrome, Multiple gastrointestinal atresias, Gastrointestinal defect and immunodeficiency syndrome |
| RS773754673 | Health Risk | Pathogenic/Likely pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1 |
| RS779549457 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Uterine corpus endometrial carcinoma |
| RS948534045 | Health Risk | Pathogenic/Likely pathogenic | Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias |
| RS989682938 | Health Risk | Pathogenic/Likely pathogenic | Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1 |