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Malformations of cortical development

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

5 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, 8:09 p.m. | Last Modified: 18 Dec 2025, 8:09 p.m.
Panel Version: 7.18
Created: 18 Dec 2025, 8:09 p.m.
Last Modified: 18 Dec 2025, 8:09 p.m.
Panel version: 7.18

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Created: 1 Feb 2023, 11:35 a.m.
Last Modified: 1 Feb 2023, 11:35 a.m.
Panel version: 3.11

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from Red to Green. This gene is associated with Ciliopathy syndrome in Gene2Phenotype (possible) but not a phenotype in OMIM. There is enough evidence for this gene to be Green.
Created: 18 Oct 2021, 11:01 a.m. | Last Modified: 18 Oct 2021, 11:01 a.m.
Panel Version: 1.147
Created: 18 Oct 2021, 11:01 a.m.
Last Modified: 18 Oct 2021, 11:01 a.m.
Copied from panel: Rare multisystem ciliopathy disorders v1.147

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

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
Created: 6 Oct 2020, 3:14 p.m. | Last Modified: 6 Oct 2020, 3:14 p.m.
Panel Version: 1.129

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OFD IX

Publications

Created: 6 Oct 2020, 3:14 p.m.
Last Modified: 6 Oct 2020, 3:14 p.m.
Copied from panel: Rare multisystem ciliopathy disorders v1.147

Alice Gardham (Genomics England)

Comment when marking as ready: Mutations only identified in one patient with ciliopathy like features
Created: 25 Jan 2017, 9:42 a.m.
Created: 25 Jan 2017, 9:42 a.m.

Copied from panel: Rare multisystem ciliopathy disorders v1.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Orofaciodigital syndrome IX, OMIM:258865
  • orofaciodigital syndrome IX, MONDO:0009795
OMIM
615867
Clinvar variants
Variants in TBC1D32
Penetrance
Complete
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, MONDO:0015375 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.

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating was removed from gene: TBC1D32.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566

8 May 2022, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

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

18 Oct 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: TBC1D32.

18 Oct 2021, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: TBC1D32 was added gene: TBC1D32 was added to Malformations of cortical development. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Amber Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566 Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome, MONDO:0015375 Penetrance for gene: TBC1D32 were set to Complete