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  3. TBC1D32
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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 12 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Created: 18 Dec 2025, 8:29 p.m. | Last Modified: 18 Dec 2025, 8:29 p.m.
Panel Version: 6.12
Created: 18 Dec 2025, 8:29 p.m.
Last Modified: 18 Dec 2025, 8:29 p.m.
Panel version: 6.12

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.
Created: 25 Jan 2017, 9:42 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.436

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Orofaciodigital syndrome IX, OMIM:258865
  • orofaciodigital syndrome IX, MONDO:0009795
  • Alsahan-Harris syndrome, OMIM:621307
  • Alsahan-Harris syndrome, MONDO:0979871
OMIM
615867
Clinvar variants
Variants in TBC1D32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TBC1D32 were changed from No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871

18 Dec 2025, Gel status: 1

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: TBC1D32.

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

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)