Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome: genes and variants
Explore variant evidence for Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome across 1 analyzed protein (TBCD). Linked ClinVar records include 10 pathogenic or likely pathogenic variants, 45 variants of uncertain significance and 14 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
TBCD: Tubulin-specific chaperone D
A tubulin-folding chaperone that helps assemble tubulin complexes and regulate microtubule dynamics. It also acts as a regulator of the ARL2 GTPase and supports mitotic-spindle formation and neuronal morphogenesis.
10 ClinVar pathogenic / likely pathogenic and 59 uncertain variants in TBCD have source records linked to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TBCD A475T | 475 | Pathogenic / likely pathogenic (★★) | |
| TBCD H77R | 77 | Pathogenic / likely pathogenic (★★) | |
| TBCD A554V | 554 | Pathogenic / likely pathogenic (★★) | |
| TBCD R772C | 772 | Pathogenic / likely pathogenic (★★) | |
| TBCD R502G | 502 | Pathogenic / likely pathogenic (★) | |
| TBCD P693T | 693 | Pathogenic / likely pathogenic (★) | |
| TBCD M387R | 387 | HEAT 1 | Pathogenic / likely pathogenic |
| TBCD R377Q | 377 | HEAT 1 | Pathogenic / likely pathogenic |
| TBCD A921T | 921 | Pathogenic / likely pathogenic | |
| TBCD P937R | 937 | Pathogenic / likely pathogenic |
Which prediction tools work for Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Observed separation of ClinVar pathogenic / likely pathogenic from benign / likely benign variants (AUROC × 100). This benchmark is not a clinical recommendation.
- CATVariant: 96 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 92 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 90 out of 100
Frequently asked questions
Which genes have records linked to Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?
This view contains 1 analyzed proteins: TBCD. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 10 pathogenic or likely pathogenic variants, 45 variants of uncertain significance and 14 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 91 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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