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  3. TGFBR2
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Craniosynostosis

Gene: TGFBR2

Green List (high evidence)
TGFBR2 (transforming growth factor beta receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000163513
EnsemblGeneIds (GRCh37): ENSG00000163513
OMIM: 190182, Gene2Phenotype
TGFBR2 is in 20 panels

1 review

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Craniosynostosis is a well-established feature of LDS - TGFBR1, TGFBR2 and SMAD3
Sources: Literature
Created: 17 Jun 2020, 1:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LOEYS-DIETZ SYNDROME

Publications

Created: 17 Jun 2020, 1:23 p.m.

Panel version: 0.66

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: tgfbr2 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: tgfbr2 has been classified as Green List (High Evidence).

17 Jun 2020, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: tgfbr2 has been classified as Red List (Low Evidence).

17 Jun 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: TGFBR2 was added gene: TGFBR2 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TGFBR2 were set to 15731757 Phenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME Penetrance for gene: TGFBR2 were set to Complete Review for gene: TGFBR2 was set to GREEN