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FAM149B1 and skeletal dysplasia are reported together in 1 article.
Gene
FAM149B1
- HGNC
- HGNC:29162
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Skeletal dysplasia
49articles
49mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.
PMID 34828254 | PMCID PMC8622907 | DOI 10.3390/genes12111648 · Genes · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FAM149B1 | “Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | skeletal dysplasia | “All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | intellectual disability | “We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.354_357delinsCACTC | “We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant.” | 0.95 | hgvs_regex_v1 |