Rare multisystem ciliopathy disorders

Gene: TBC1D32

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, 8:15 p.m. | Last Modified: 18 Dec 2025, 8:23 p.m.

Panel Version: 1.179

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

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

• PMID: 32573025
• 31130284
• 32060556

Comment when marking as ready: Mutations only identified in one patient with ciliopathy like features

Created: 25 Jan 2017, 9:42 a.m.