CNBP_CCTG

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green CNBP_CCTG STR in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.46	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags STR
Amber CNBP_CCTG STR in Distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 3.17 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags STR Q1_24_promote_green
Amber CNBP_CCTG STR in Skeletal muscle channelopathy Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags STR Q1_24_promote_green
Amber CNBP_CCTG STR in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert Review Phenotypes Myotonic dystrophy 2, OMIM:602668 Tags STR Q1_24_promote_green
Green CNBP_CCTG STR in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags STR