TRAPPC11

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Amber TRAPPC11 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.58 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Green TRAPPC11 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Expert Review Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356)
Green TRAPPC11 in Regression Level 2: Neurology and neurodevelopmental disorders Version 0.572	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TRAPPC11 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM #615356
Green TRAPPC11 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356
Green TRAPPC11 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
Green TRAPPC11 in Fetal anomalies Version 1.313	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Expert list Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Green TRAPPC11 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Muscular dystrophy, limb-girdle, type 2S, 615356 (3)