TBC1D23 Chromosome 3
TBC1 domain family member 23
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What This Gene Does
Involved in brain development; retrograde transport, endosome to Golgi; and vesicle tethering to Golgi. Located in WASH complex; cytoplasmic vesicle; and trans-Golgi network. Implicated in pontocerebellar hypoplasia type 11. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (4)
Inborn genetic diseases
Pontocerebellar hypoplasia
type 11
Pontoneocerebellar hypoplasia
Key Variants
RS761061399
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1354130291
Likely pathogenic
Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia
Health Risk
RS1553731605
Likely pathogenic
Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia
Health Risk
RS1553730872
Pathogenic
Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia
Health Risk
RS1553730885
Pathogenic
Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia
Health Risk
RS1553731603
Pathogenic
Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia
Health Risk
RS2148863572
Pathogenic
Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia
Health Risk
RS2472195074
Pathogenic
Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia
Health Risk
RS2148861371
Pathogenic/Likely pathogenic
Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia
Health Risk
RS773150360
Pathogenic/Likely pathogenic
Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS761061399 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1354130291 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia |
| RS1553731605 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia |
| RS1553730872 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia |
| RS1553730885 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 11, Pontoneocerebellar hypoplasia |
| RS1553731603 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia |
| RS2148863572 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia |
| RS2472195074 | Health Risk | Pathogenic | Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia |
| RS2148861371 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia |
| RS773150360 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia, type 11, Pontocerebellar hypoplasia |