TTC5 Chromosome 14
Tetratricopeptide repeat domain 5
Upload your DNA to see your personal genotypes for variants in TTC5.
What This Gene Does
Enables ribosome binding activity. Involved in positive regulation of mRNA catabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Tetratricopeptide repeat domain containing
Locus Type
gene with protein product
Location
14q11.2
Ensembl
ENSG00000136319
Associated Conditions (1)
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Key Variants
RS769374125
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
RS552581393
Likely pathogenic
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
RS1444869298
Pathogenic
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
RS2138814053
Pathogenic
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
RS2138814108
Pathogenic
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
RS749799203
Pathogenic
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
RS199831317
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS769374125 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| RS552581393 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| RS1444869298 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| RS2138814053 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| RS2138814108 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| RS749799203 | Health Risk | Pathogenic | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |
| RS199831317 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism |