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Thoracic dystrophies

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
Created: 18 Dec 2025, 8:02 p.m. | Last Modified: 18 Dec 2025, 8:02 p.m.
Panel Version: 1.23
Created: 18 Dec 2025, 8:02 p.m.
Last Modified: 18 Dec 2025, 8:02 p.m.
Panel version: 1.23

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 24285566 - single case reported.
Created: 31 May 2017, 8:42 a.m.
Created: 31 May 2017, 8:42 a.m.

Panel version: 0.116

Melita Irving (Guy's and St Thomas' NHS Trust)

Red List (low evidence)

Phenotypes
OFD

Created: 26 May 2017, 8:02 a.m.

Panel version: 0.35

Hannah Mitchison (UCL and GOSH)

Red List (low evidence)

Phenotypes
OFD

Created: 25 May 2017, 9:26 a.m.

Panel version: 0.5

History Filter Activity

18 Dec 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; Orofaciodigital syndrome, MONDO:0015375 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795

18 Dec 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: TBC1D32 were changed from OFD to Orofaciodigital syndrome IX, OMIM:258865; Orofaciodigital syndrome, MONDO:0015375

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.

31 May 2017, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

31/05/2017: Panel revised after expert input, clinical review, and further curation. Ready to promote to version 1.

31 May 2017, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TBC1D32 were set to 24285566

25 May 2017, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

25 May 2017, Gel status: 0

Created

Hannah Mitchison (UCL and GOSH)

TBC1D32 was created by hmitchis

25 May 2017, Gel status: 0

Added New Source

Hannah Mitchison (UCL and GOSH)

TBC1D32 was added to Thoracic dystrophiespanel. Sources: Expert Review