Malformations of cortical development
Gene: TBC1D32
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
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
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, polydactylyCreated: 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
Comment when marking as ready: Mutations only identified in one patient with ciliopathy like featuresCreated: 25 Jan 2017, 9:42 a.m.
Tag Q3_21_rating was removed from gene: TBC1D32.
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)
Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566
Tag gene-checked tag was added to gene: TBC1D32.
Tag Q3_21_rating tag was added to gene: TBC1D32.
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