Intellectual_disability
Gene: TBC1D8B

TBC1D8B (TBC1 domain family member 8B)
EnsemblGeneIds (GRCh38): ENSG00000133138
EnsemblGeneIds (GRCh37): ENSG00000133138
TBC1D8B is in 2 panels

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

Phenotypes

Clinvar variants

Variants in TBC1D8B

Penetrance

Complete

Publications

Panels with this gene

8 Oct 2015, Gel status: 0

Ellen McDonagh (Genomics England Curator)

TBC1D8B was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)