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  3. TANC2
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Intellectual disability syndromic and non-syndromic

Gene: TANC2

Green List (high evidence)
TANC2 (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2)
EnsemblGeneIds (GRCh38): ENSG00000170921
EnsemblGeneIds (GRCh37): ENSG00000170921
OMIM: 615047, Gene2Phenotype
TANC2 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906

Created: 21 Jun 2020, 7:41 a.m.
Last Modified: 21 Jun 2020, 7:41 a.m.
Panel version: 0.2702

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

19 families with potentially disruptive heterozygous TANC2 variants, including 16 likely gene-disrupting mutations and three intragenic microdeletions. Patients presented with autism, intellectual disability, delayed language and motor development, epilepsy, facial dysmorphism, with complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. No functional evidence of specific variants, but they show TANC2 is expressed broadly in the human developing brain, especially in excitatory neurons and glial cells, and shows a more restricted pattern in Drosophila glial cells where its disruption affects behavioral outcomes.
Sources: Literature
Created: 11 Dec 2019, 3:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
no OMIM number yet

Publications

Created: 11 Dec 2019, 3:57 a.m.

Panel version: 0.1287

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • autism
  • epilepsy
  • dysmorphism
  • Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906
OMIM
615047
Clinvar variants
Variants in TANC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TANC2 were changed from no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism to Intellectual disability; autism; epilepsy; dysmorphism; Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM# 618906

4 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tanc2 has been classified as Green List (High Evidence).

4 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TANC2 were changed from no OMIM number yet to no OMIM number yet; Intellectual disability; autism; epilepsy; dysmorphism

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: tanc2 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: TANC2 was added gene: TANC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TANC2 were set to PMID: 31616000 Phenotypes for gene: TANC2 were set to no OMIM number yet Review for gene: TANC2 was set to GREEN