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Fetal anomalies

Gene: TBC1D32

Green List (high evidence)
TBC1D32 (TBC1 domain family member 32)
EnsemblGeneIds (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, 8:09 p.m. | Last Modified: 18 Dec 2025, 8:24 p.m.
Panel Version: 6.124
Created: 18 Dec 2025, 8:09 p.m.
Last Modified: 18 Dec 2025, 8:24 p.m.
Panel version: 6.124

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). There are sufficient unrelated cases with a fetally-relevant phenotype and biallelic variants in TBC1D32 to promoted this gene to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 4:52 p.m. | Last Modified: 1 Feb 2021, 4:52 p.m.
Panel Version: 1.558
Created: 1 Feb 2021, 4:52 p.m.
Last Modified: 1 Feb 2021, 4:52 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

Now 5 families reported:

The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype:

- One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs
- The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet

- There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly
Sources: Literature
Created: 28 Jan 2021, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OFD IX

Publications

Created: 28 Jan 2021, 12:27 p.m.

Panel version: 1.185

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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: 3

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

18 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

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

18 Dec 2025, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked was removed from gene: TBC1D32.

22 Sep 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

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

3 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: TBC1D32.

3 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: TBC1D32.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: TBC1D32 was added gene: TBC1D32 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556 Phenotypes for gene: TBC1D32 were set to OFD IX Review for gene: TBC1D32 was set to GREEN