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Additional findings_Paediatric

Gene: TCAP

Red List (low evidence)

TCAP (titin-cap)
EnsemblGeneIds (GRCh38): ENSG00000173991
EnsemblGeneIds (GRCh37): ENSG00000173991
OMIM: 604488, Gene2Phenotype
TCAP is in 10 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • Cardiomyopathy, dilated
  • Muscular dystrophy, limb-girdle, type 2G
OMIM
604488
Clinvar variants
Variants in TCAP
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to TCAP. Source Expert Review Red was added to TCAP. Added phenotypes Cardiomyopathy, dilated for gene: TCAP Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCAP was added gene: TCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G