Anophthalmia_Microphthalmia_Coloboma
Gene: TOGARAM1
Additional family with microphthalmia as part of a ciliopathy phenotype reported in PMID 32453716.Created: 23 Feb 2021, 7:30 p.m. | Last Modified: 23 Feb 2021, 7:30 p.m.
Panel Version: 1.0
PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding.
Sources: LiteratureCreated: 2 Sep 2020, 11:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Publications
Phenotypes for gene: TOGARAM1 were changed from Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus to Joubert syndrome 37, MIM# 619185; Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus
Publications for gene: TOGARAM1 were set to 32747439
Gene: togaram1 has been classified as Amber List (Moderate Evidence).
Gene: togaram1 has been classified as Red List (Low Evidence).
gene: TOGARAM1 was added gene: TOGARAM1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus Review for gene: TOGARAM1 was set to RED