Anophthalmia_Microphthalmia_Coloboma

Gene: TOGARAM1

Amber List (moderate evidence)

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)

I don't know

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: Literature
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome 37, MIM# 619185
  • Cleft of the lip and palate
  • Microphthalmia
  • Cerebral dysgenesis
  • Hydrocephalus
OMIM
617618
Clinvar variants
Variants in TOGARAM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TOGARAM1 were set to 32747439

23 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram1 has been classified as Amber List (Moderate Evidence).

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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