1. Panels
  2. Skeletal Dysplasia_Fetal
  3. TBX15
STRs in panel
Prev Next
Regions in panel
Prev Next

Skeletal Dysplasia_Fetal

Gene: TBX15

Green List (high evidence)
TBX15 (T-box 15)
EnsemblGeneIds (GRCh38): ENSG00000092607
EnsemblGeneIds (GRCh37): ENSG00000092607
OMIM: 604127, Gene2Phenotype
TBX15 is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Rhizomelic/mesomelic limb shortening described and other skeletal anomalies with possibility of prenatal detection.
Sources: Literature, Expert list
Created: 27 Sep 2022, 3 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cousin syndrome - MIM#260660

Publications

Created: 27 Sep 2022, 3 a.m.

Panel version: 0.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Literature
Phenotypes
  • Cousin syndrome - MIM#260660
OMIM
604127
Clinvar variants
Variants in TBX15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx15 has been classified as Green List (High Evidence).

5 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tbx15 has been classified as Green List (High Evidence).

27 Sep 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: TBX15 was added gene: TBX15 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX15 were set to 19068278; 24039145 Phenotypes for gene: TBX15 were set to Cousin syndrome - MIM#260660 Review for gene: TBX15 was set to GREEN