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Clefting disorders

Gene: TUBB

Green List (high evidence)

TUBB (tubulin beta class I)
EnsemblGeneIds (GRCh38): ENSG00000196230
EnsemblGeneIds (GRCh37): ENSG00000196230
OMIM: 191130, Gene2Phenotype
TUBB is in 9 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CSCSC1
  • SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
OMIM
191130
Clinvar variants
Variants in TUBB
Penetrance
None
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TUBB was added gene: TUBB was added to Clefting_GEL. Sources: Expert Review Green Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TUBB were set to CSCSC1; SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1