TRAPPC11

trafficking protein particle complex subunit 11
OMIM: 614138, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber TRAPPC11 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356

Green TRAPPC11 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert list
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356)

Green TRAPPC11 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TRAPPC11 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
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356

Green TRAPPC11 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 2S, 615356 (3)

Green TRAPPC11 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, type 2S, 615356 (3)