Neurological ciliopathies

Gene: TOGARAM1

No list

TOGARAM1 (TOG array regulator of axonemal microtubules 1)
EnsemblGeneIds (GRCh38): ENSG00000198718
EnsemblGeneIds (GRCh37): ENSG00000198718
OMIM: 617618, Gene2Phenotype
TOGARAM1 is in 3 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Created: 5 Mar 2021, 6:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 37, MIM# 619185

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Joubert syndrome 37, MIM# 619185
OMIM
617618
Clinvar variants
Variants in TOGARAM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TOGARAM1 was added gene: TOGARAM1 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439; 32453716 Phenotypes for gene: TOGARAM1 were set to Joubert syndrome 37, MIM# 619185 Review for gene: TOGARAM1 was set to GREEN