Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Additional findings_Paediatric

Gene: TAB2

Red List (low evidence)

TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2)
EnsemblGeneIds (GRCh38): ENSG00000055208
EnsemblGeneIds (GRCh37): ENSG00000055208
OMIM: 605101, Gene2Phenotype
TAB2 is in 10 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Congenital heart disease, nonsyndromic
OMIM
605101
Clinvar variants
Variants in TAB2
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TAB2 was added gene: TAB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic