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Mendeliome

Gene: T

Red List (low evidence)

T (T brachyury transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000164458
EnsemblGeneIds (GRCh37): ENSG00000164458
OMIM: 601397, Gene2Phenotype
T is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Four individuals from three families reported. However, same homozygous missense variant in all, likely founder effect.
Created: 25 Mar 2022, 3:56 a.m. | Last Modified: 25 Mar 2022, 3:56 a.m.
Panel Version: 0.11919

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sacral agenesis with vertebral anomalies 615709

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Sacral agenesis with vertebral anomalies, MIM# 615709
OMIM
601397
Clinvar variants
Variants in T
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 Mar 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: T were changed from to Sacral agenesis with vertebral anomalies, MIM# 615709

25 Mar 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: T were set to

25 Mar 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: t 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: T was added gene: T was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: T was set to Unknown