Structural eye disease
Gene: TBC1D32EnsemblGeneIds (GRCh38): ENSG00000146350
EnsemblGeneIds (GRCh37): ENSG00000146350
OMIM: 615867, Gene2Phenotype
TBC1D32 is in 12 panels
3 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, 8:14 p.m. | Last Modified: 18 Dec 2025, 8:26 p.m.
Panel Version: 4.35
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
FC - I would classify the gene as AMBER, because although there is only 1 human mutation reported with this phenotype, this was found in a consanguineous family and the eye phenotype is supported by animal models (Ko et al., 2010, PubMed: 20159594)Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome 9; 258865
Publications
- PMID: 24285566
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - I would classify the gene as AMBER, because although there is only 1 human mutation reported with this phenotype, this was found in a consanguineous family and the eye phenotype is supported by animal models (Ko et al., 2010, PubMed: 20159594)Created: 17 Apr 2019, 3:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome 9; 258865
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- 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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome 9, 258865 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked was removed from gene: TBC1D32.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked tag was added to gene: TBC1D32.
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TBC1D32 were set to 24285566
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TBC1D32 was added gene: TBC1D32 was added to Structural eye disease. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 24285566 Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome 9, 258865