Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: TBR1

Amber List (moderate evidence)

TBR1 (T-box, brain 1)
EnsemblGeneIds (GRCh38): ENSG00000136535
EnsemblGeneIds (GRCh37): ENSG00000136535
OMIM: 604616, Gene2Phenotype
TBR1 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Heterozygous de novo PTC and missense variants reported in at least 7 unrelated patients with impaired intellectual development with autism and speech delay (PMID: 25232744, 30250039).

Pachygyria in some individuals.
Created: 5 Mar 2020, 3:28 a.m. | Last Modified: 17 Jan 2022, 7:53 a.m.
Panel Version: 0.2354

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder with autism and speech delay, MIM# 606053

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder with autism and speech delay, MIM# 606053
OMIM
604616
Clinvar variants
Variants in TBR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbr1 has been classified as Amber List (Moderate Evidence).

17 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TBR1 were changed from AUTISM to Intellectual developmental disorder with autism and speech delay, MIM# 606053

17 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBR1 were set to

17 Jan 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBR1 was added gene: TBR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TBR1 were set to AUTISM