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Autism

Gene: TANC2

Red List (low evidence)

TANC2 (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2)
EnsemblGeneIds (GRCh38): ENSG00000170921
EnsemblGeneIds (GRCh37): ENSG00000170921
OMIM: 615047, Gene2Phenotype
TANC2 is in 3 panels

2 reviews

Andrea Haworth (ACGS, Congenica)

Recent publication PMC6794285 https://www.nature.com/articles/s41467-019-12435-8
Describes loss of function variants in TANC2 in 20 pediatric patients presenting with autism, intellectual disability, and delayed language and motor development. Variants observed included missense, nonsense, splice, frameshift and structural variation. variants were de novo or inherited from an affected parent.

Paper describes genetic and clinical features of cases. Suggest that this gene should be elevated to amber or red after review.
Created: 23 Oct 2019, 5:52 p.m. | Last Modified: 23 Oct 2019, 5:52 p.m.
Panel Version: 0.15

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/TANC2
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Red
  • SFARI
OMIM
615047
Clinvar variants
Variants in TANC2
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to TANC2.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TANC2 was added gene: TANC2 was added to Autism. Sources: SFARI Mode of inheritance for gene: TANC2 was set to