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Retinal disorders

Gene: TBC1D32

Amber List (moderate evidence)
TBC1D32 (TBC1 domain family member 32)
EnsemblGeneIds (GRCh38): ENSG00000146350
EnsemblGeneIds (GRCh37): ENSG00000146350
OMIM: 615867, Gene2Phenotype
TBC1D32 is in 12 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621280) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 8:13 p.m. | Last Modified: 18 Dec 2025, 8:13 p.m.
Panel Version: 8.75
Comment on list classification: There is sufficient evidence available (three unrelated cases and functional studies) for the promotion of this gene to green rating on the retinal disorders panel in the next GMS update.
Created: 20 Jun 2025, 7:45 p.m. | Last Modified: 20 Jun 2025, 7:45 p.m.
Panel Version: 8.6
PMID:37768732 reported the identification of biallelic variants in TBC1D32 gene in four individuals from three unrelated families with retinitis pigmentosa. In addition, data from Xenopus in vivo approaches and human induced pluripotent stem cell-derived (iPSC-derived) retinal models also support the disease association.

This gene is not yet associated with any phenotypes in OMIM.
Sources: Literature
Created: 20 Jun 2025, 7:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa, MONDO:0019200

Publications

Created: 20 Jun 2025, 7:44 p.m.

Panel version: 8.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa 100, OMIM:621280
  • retinitis pigmentosa, MONDO:0019200
Tags
dd_review Q2_25_ promote_green
OMIM
615867
Clinvar variants
Variants in TBC1D32
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TBC1D32 were changed from retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 100, OMIM:621280; retinitis pigmentosa, MONDO:0019200

20 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).

20 Jun 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TBC1D32 was added gene: TBC1D32 was added to Retinal disorders. Sources: Literature dd_review, Q2_25_ promote_green tags were added to gene: TBC1D32. Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 37768732 Phenotypes for gene: TBC1D32 were set to retinitis pigmentosa, MONDO:0019200 Review for gene: TBC1D32 was set to GREEN