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Pituitary hormone deficiency
Gene: TBC1D32

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, 8:07 p.m. | Last Modified: 18 Dec 2025, 8:07 p.m.

Panel Version: 4.3

Created: 18 Dec 2025, 8:07 p.m.
Last Modified: 18 Dec 2025, 8:07 p.m.
Panel version: 4.3

Catherine Snow (Genomics England)

The rating of this gene has been updated to GREEN following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 3:01 p.m.

Panel Version: 2.106

Created: 31 Jan 2023, 3:01 p.m.
Last Modified: 31 Jan 2023, 3:01 p.m.
Panel version: 2.106

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 22 Sep 2022, 4 p.m. | Last Modified: 22 Sep 2022, 4 p.m.

Panel Version: 2.102

Not associated with a phenotype in OMIM, and limited association to Ciliopathy syndrome in Gen2Phen. At least four variants have been reported in three unrelated cases in PMIDs: 24285566;32060556;35875813.
Created: 22 Sep 2022, 3:56 p.m. | Last Modified: 22 Sep 2022, 3:56 p.m.

Panel Version: 2.101

Created: 22 Sep 2022, 3:56 p.m.
Last Modified: 22 Sep 2022, 3:56 p.m.
Panel version: 2.101

Eleanor Williams (Genomics England Curator)

Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Hietamki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Knskoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T.J Clin Endocrinol Metab
Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.

Panel Version: 2.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HYPOPITUITARISM, OROFACIODIGITAL SYNDROME FEATURES, POLYDACTYLY

Created: 14 Sep 2022, 4:44 p.m.
Last Modified: 14 Sep 2022, 4:44 p.m.
Panel version: 2.15

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Expert review

Phenotypes

Orofaciodigital syndrome IX, OMIM:258865
orofaciodigital syndrome IX, MONDO:0009795
Syndromic Hypopituitarism

OMIM

615867

Clinvar variants

Variants in TBC1D32

Penetrance

None

Publications

Panels with this gene

History Filter Activity

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

18 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: TBC1D32.

7 Feb 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

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

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q3_22_NHS_review was removed from gene: TBC1D32.

31 Jan 2023, Gel status: 3

Removed Tag

Catherine Snow (Genomics England)

Tag Q3_22_rating was removed from gene: TBC1D32.

31 Jan 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Green was added to TBC1D32. Source NHS GMS was added to TBC1D32. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 Sep 2022, Gel status: 2