Neurological ciliopathies

Gene: TBC1D32

Red List (low evidence)

TBC1D32 (TBC1 domain family member 32)
EnsemblGeneIds (GRCh38): ENSG00000146350
EnsemblGeneIds (GRCh37): ENSG00000146350
OMIM: 615867, Gene2Phenotype
TBC1D32 is in 7 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Mutations only identified in one patient with ciliopathy like features
Created: 25 Jan 2017, 9:42 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
OMIM
615867
Clinvar variants
Variants in TBC1D32
Penetrance
None
Panels with this gene

History Filter Activity

25 Jul 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TBC1D32 was added gene: TBC1D32 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)