Ophthalmological ciliopathies
Gene: TBC1D32EnsemblGeneIds (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, 8:28 p.m. | Last Modified: 18 Dec 2025, 8:28 p.m.
Panel Version: 5.10
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 12:36 p.m. | Last Modified: 30 Jan 2023, 12:36 p.m.
Panel Version: 2.6
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber. 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.
Green review from Rhiannon Mellis (Great Ormond Street Hospital) on the Rare multisystem ciliopathy disorders panel (ID: 150):
"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
PMID: 32573025
31130284
32060556"Created: 18 Oct 2021, 11:09 a.m. | Last Modified: 18 Oct 2021, 11:09 a.m.
Panel Version: 1.23
Alice Gardham (Genomics England)
Comment when marking as ready: Mutations only identified in one patient with ciliopathy like featuresCreated: 25 Jan 2017, 9:42 a.m.
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
- 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
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; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag gene-checked was removed from gene: TBC1D32.
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_21_rating was removed from gene: TBC1D32.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (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)
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: TBC1D32.
Added Tag
Ivone Leong (Genomics England Curator)Tag Q3_21_rating tag was added to gene: TBC1D32.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TBC1D32 were changed from No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36) to Orofaciodigital syndrome, MONDO:0015375
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TBC1D32 were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TBC1D32 was added gene: TBC1D32 was added to Ophthalmological ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)