TCAP

titin-cap
OMIM: 604488, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red TCAP in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954)
  • Cardiomyopathy, hypertrophic, 25 (MIM# 607487)

Red TCAP in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 2.0

3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Cardiomyopathy, hypertrophic, 25, MIM# 607487
Tags
  • disputed

Red TCAP in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)

Green TCAP in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2G, 601954

Green TCAP in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2G, 601954 (3)

Green TCAP in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM#601954

Red TCAP in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
  • BabySeq Category C gene
Phenotypes
  • Cardiomyopathy, dilated
  • Muscular dystrophy, limb-girdle, type 2G