Skeletal muscle channelopathy
Gene: CNBPComment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 10:36 a.m. | Last Modified: 9 Nov 2021, 10:36 a.m.
Panel Version: 1.33
Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.Created: 8 Nov 2019, 3:15 p.m. | Last Modified: 8 Nov 2019, 3:15 p.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myotonic dystrophy 2, 602668
Publications
Tag currently-ngs-unreportable was removed from gene: CNBP.
Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Tag nucleotide-repeat-expansion tag was added to gene: CNBP. Tag currently-ngs-unreportable tag was added to gene: CNBP.
Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Gene: cnbp has been classified as Red List (Low Evidence).
Publications for gene CNBP were changed from to 18807109
Source NHS GMS was added to CNBP.
Mode of inheritance for gene CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Source Expert Review Green was added to CNBP. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: CNBP was added gene: CNBP was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: CNBP was set to