TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
Disease: Kallmann Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0162809
Disease:
Kallmann Syndrome 		0.020 GeneticVariation BEFREE A heterozygous de novo c.1228G>A mutation (E410K) in the TUBB3 gene encoding the neuronal-specific β-tubulin isotype 3 (TUBB3) causes the TUBB3 E410K syndrome characterized by congenital fibrosis of the extraocular muscles (CFEOM), facial weakness, intellectual and social disabilities, and Kallmann syndrome (anosmia with hypogonadotropic hypogonadism). 25559402 2015
dbSNP: rs267607165
rs267607165
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0162809
Disease:
Kallmann Syndrome 		0.020 GeneticVariation BEFREE Moreover, the c.1228G>A mutation was absent in DNA from ∼600 individuals who had either Kallmann syndrome or isolated or syndromic ocular and/or facial dysmotility disorders, but who did not have the combined features of the TUBB3 E410K syndrome, highlighting the specificity of this phenotype-genotype correlation. 23378218 2013