FAM149B1
Chr 10ARfamily with sequence similarity 149 member B1
Also known as: JBTS36, KIAA0974
Primary Disease Associations & Inheritance
Joubert syndrome 36MIM #618763
AR
Clinical highlights
Gene-disease validity (ClinGen)
Joubert syndrome 36 · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.05LOEUF
pLI 0.000
Z-score 1.34
OE 0.75 (0.54–1.05)
Highly tolerant — LoF variants common in population
Missense Constraint?
1.56Z-score
OE missense 0.75 (0.67–0.83)
223 obs / 298.9 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.75 (0.54–1.05)
0≤0.351.4
Missense OE?0.75 (0.67–0.83)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 24 / 32.2Missense obs/exp: 223 / 298.9Syn Z: 0.94
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM149B1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools