Skeletal 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 10 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.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • No OMIM phenotype
  • Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Clinvar variants
Variants in TBC1D32
Panels with this gene

History Filter Activity

7 Feb 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: TBC1D32.

22 Sep 2022, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TBC1D32 were set to

10 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: TBC1D32 was added gene: TBC1D32 was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,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)