Rare multisystem ciliopathy disorders
Gene: TBC1D32Comment 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.
Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566
Tag gene-checked tag was added to gene: TBC1D32.
Gene: tbc1d32 has been classified as Green List (High Evidence).
Gene: tbc1d32 has been classified as Amber List (Moderate Evidence).
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
Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556
Publications for gene: TBC1D32 were set to
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
TBC1D32 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Phenotypes for gene TBC1D32 were set to No OMIM phenotype;Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
TBC1D32 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
TBC1D32 was created by ellenmcdonagh