TRAPPC2L

trafficking protein particle complex 2 like
OMIM: 610970, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber TRAPPC2L in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 6.9 Latest signed off version: v6.8 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, MONDO:0032681 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331
Amber TRAPPC2L in Congenital muscular dystrophy Level 2: Neurology Version 7.27 Latest signed off version: v7.26 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, MONDO:0032681 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331
Red TRAPPC2L in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red DD-Gene2Phenotype Phenotypes TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331
Amber TRAPPC2L in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, MONDO:0032681 Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 Tags Q2_26_promote_green