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  2. Joubert syndrome and other neurological ciliopathies
  3. TOGARAM1
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Joubert syndrome and other neurological ciliopathies

Gene: TOGARAM1

Green List (high 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)

Green List (high evidence)

Six families reported with features of a ciliopathy, including molar tooth sign.
Sources: Literature
Created: 23 Feb 2021, 7:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 37, MIM# 619185

Publications

Created: 23 Feb 2021, 7:35 p.m.

Panel version: 0.103

Details

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

History Filter Activity

23 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram1 has been classified as Green List (High Evidence).

23 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: togaram1 has been classified as Green List (High Evidence).

23 Feb 2021, 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 Joubert syndrome and other 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