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Intellectual disability syndromic and non-syndromic

Gene: TBR1

Green List (high 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)

Green List (high evidence)

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).
Created: 5 Mar 2020, 3:28 a.m. | Last Modified: 5 Mar 2020, 3:28 a.m.
Panel Version: 0.2391

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 Green
  • 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

5 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbr1 has been classified as Green List (High Evidence).

5 Mar 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Mar 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBR1 were set to

5 Mar 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TBR1 was added gene: TBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBR1 was set to Unknown