Hydrocephalus_Ventriculomegaly
Gene: TOGARAM1

TOGARAM1 (TOG array regulator of axonemal microtubules 1)
EnsemblGeneIds (GRCh38): ENSG00000198718
EnsemblGeneIds (GRCh37): ENSG00000198718
OMIM: 617618, Gene2Phenotype
TOGARAM1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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: Literature
Created: 2 Sep 2020, 11:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus

Publications

32747439

Created: 2 Sep 2020, 11:44 p.m.

Panel version: 0.56

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Cleft of the lip and palate
Microphthalmia
Cerebral dysgenesis
Hydrocephalus

OMIM

617618

Clinvar variants

Variants in TOGARAM1

Penetrance

None

Publications

32747439

Panels with this gene

History Filter Activity

2 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram1 has been classified as Red List (Low Evidence).

2 Sep 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes