Isolated cerebellar hypoplasia/agenesis: genes and variants
Explore variant evidence for Isolated cerebellar hypoplasia/agenesis across 2 analyzed proteins (FGFR1, TUBA1A). Linked ClinVar records include 2 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 0 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. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Isolated cerebellar hypoplasia/agenesis
FGFR1: Fibroblast growth factor receptor 1
Its fibroblast-growth-factor signaling controls proliferation, differentiation, migration, and developmental patterning in many tissues. Germline pathogenic variants can cause hypogonadotropic hypogonadism or craniosynostosis syndromes, while fusions and other activating alterations drive selected cancers.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in FGFR1 have source records linked to Isolated cerebellar hypoplasia/agenesis. Association strength is not clinical gene validity.
TUBA1A: Tubulin alpha-1A chain
An alpha-tubulin chain that pairs with beta-tubulin to build microtubules. Microtubules provide tracks for transport and help shape dividing and migrating cells, making TUBA1A especially important for fetal brain development.
1 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in TUBA1A have source records linked to Isolated cerebellar hypoplasia/agenesis. Association strength is not clinical gene validity.
Weakly linked (only a few uncertain records): ASXL1, CASK and HSD17B4.
ClinVar pathogenic and likely pathogenic variants linked to Isolated cerebellar hypoplasia/agenesis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| FGFR1 R627S | 627 | Protein kinase | Pathogenic / likely pathogenic |
| TUBA1A K60N | 60 | Pathogenic / likely pathogenic |
Same protein, different disease
- Hypogonadotropic hypogonadism 2 with or without anosmia also has ClinVar records linked to FGFR1 variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (55 pathogenic / likely pathogenic).
- Pfeiffer syndrome also has ClinVar records linked to FGFR1 variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (18 pathogenic / likely pathogenic).
- Hartsfield-Bixler-Demyer syndrome also has ClinVar records linked to FGFR1 variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (13 pathogenic / likely pathogenic).
- Jackson-Weiss syndrome also has ClinVar records linked to FGFR1 variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (5 pathogenic / likely pathogenic).
- Osteoglophonic dysplasia also has ClinVar records linked to FGFR1 variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (5 pathogenic / likely pathogenic).
- Tubulinopathy also has ClinVar records linked to TUBA1A variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (101 pathogenic / likely pathogenic).
- Lissencephaly due to TUBA1A mutation also has ClinVar records linked to TUBA1A variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (62 pathogenic / likely pathogenic).
- Tubulinopathy-associated dysgyria also has ClinVar records linked to TUBA1A variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (6 pathogenic / likely pathogenic).
- TUBA1A-associated tubulinopathy also has ClinVar records linked to TUBA1A variants; they fall mostly in different places as the Isolated cerebellar hypoplasia/agenesis variants (3 pathogenic / likely pathogenic).
Diseases related to Isolated cerebellar hypoplasia/agenesis
- Non-small cell lung carcinoma, also linked to FGFR1 and TUBA1A
- Tubulinopathy, also linked to TUBA1A
- Autosomal recessive limb-girdle muscular dystrophy, also linked to TUBA1A
- Lissencephaly due to TUBA1A mutation, also linked to TUBA1A
- Hypogonadotropic hypogonadism 2 with or without anosmia, also linked to FGFR1
- Pfeiffer syndrome, also linked to FGFR1
- Colorectal cancer, also linked to FGFR1
- Gastric cancer, also linked to TUBA1A
- Infantile spasms, also linked to TUBA1A
- Hartsfield-Bixler-Demyer syndrome, also linked to FGFR1
- Idiopathic pulmonary fibrosis, also linked to FGFR1
- Multiple myeloma, also linked to TUBA1A
Frequently asked questions
Which genes have records linked to Isolated cerebellar hypoplasia/agenesis?
This view contains 2 analyzed proteins: FGFR1, TUBA1A. 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 2 pathogenic or likely pathogenic variants, 2 variants of uncertain significance and 0 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 5 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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