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Cerebral Palsy

Gene: TANGO2

Amber List (moderate evidence)
TANGO2 (transport and golgi organization 2 homolog)
EnsemblGeneIds (GRCh38): ENSG00000183597
EnsemblGeneIds (GRCh37): ENSG00000183597
OMIM: 616830, Gene2Phenotype
TANGO2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Typically complex multi-system presentation.
Created: 2 Aug 2023, 4:27 a.m. | Last Modified: 2 Aug 2023, 4:27 a.m.
Panel Version: 1.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878

Created: 2 Aug 2023, 4:27 a.m.
Last Modified: 2 Aug 2023, 4:27 a.m.
Panel version: 1.169

Luisa Weiss (University of Adelaide)

Green List (high evidence)

3 individual patients in two large CP cohort study, both with biallelic larger deletions encompassing TANGO2. Phenotypic information is only given for one patient, this one showed slowly progressive spastic paraplegia and ataxia.
Sources: Literature
Created: 1 Aug 2023, 12:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878

Publications

Created: 1 Aug 2023, 12:29 a.m.

Panel version: 1.146

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878
OMIM
616830
Clinvar variants
Variants in TANGO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tango2 has been classified as Amber List (Moderate Evidence).

2 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tango2 has been classified as Amber List (Moderate Evidence).

1 Aug 2023, Gel status: 0

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

Luisa Weiss (University of Adelaide)

gene: TANGO2 was added gene: TANGO2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 33528536; 34364746 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Review for gene: TANGO2 was set to GREEN