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Callosome
Gene: TBR1

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)

Red List (low evidence)

Cannot find specific link to corpus callosum abnormalities.
Created: 5 Mar 2020, 3:45 a.m. | Last Modified: 5 Mar 2020, 3:45 a.m.

Panel Version: 0.100

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 5 Mar 2020, 3:45 a.m.
Last Modified: 5 Mar 2020, 3:45 a.m.
Panel version: 0.100

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

Clinvar variants

Variants in TBR1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbr1 has been classified as Red List (Low Evidence).

5 Mar 2020, Gel status: 1

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: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TBR1 were set to

5 Mar 2020, Gel status: 1

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

5 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbr1 has been classified as Red List (Low Evidence).

17 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 Corpus callosum agenesis, Callosome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TBR1 was set to Unknown