Distal myopathies
Gene: CNBP
The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 4:42 p.m. | Last Modified: 1 Feb 2023, 4:42 p.m.
Panel Version: 2.3
The mode of inheritance of this gene has been updated to Other following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 4:42 p.m. | Last Modified: 1 Feb 2023, 4:42 p.m.
Panel Version: 2.3
Comment on list classification: Should be demoted to Red at the next GMS update, this review is for the STR entity and not the gene entity.Created: 9 Nov 2021, 11:48 a.m. | Last Modified: 9 Nov 2021, 11:48 a.m.
Panel Version: 1.36
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. MOI should be changed to 'Other' to maintain consistency with other panelsCreated: 9 Nov 2021, 10:34 a.m. | Last Modified: 9 Nov 2021, 11:51 a.m.
Panel Version: 1.36
Comment when marking as ready: DM2 is in differential with distal myopathies. DM2 is caused by nucleotide expansions, hence tags for nucleotide expansions and currently not ngs unreportable addedCreated: 20 Feb 2017, 12:18 p.m.
Comment on mode of pathogenicity: Caused by the expansion of the CCTG repeat motif in intron 1Created: 20 Feb 2017, 12:14 p.m.
in differential with distal myopathiesCreated: 1 Feb 2017, 11:37 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 2, 602668
Tag currently-ngs-unreportable was removed from gene: CNBP.
Tag Q4_21_MOI was removed from gene: CNBP. Tag Q4_21_rating was removed from gene: CNBP.
Source Expert Review Red was added to CNBP. Source NHS GMS was added to CNBP. Mode of inheritance for gene CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q4_21_MOI tag was added to gene: CNBP. Tag Q4_21_rating tag was added to gene: CNBP.
Gene: cnbp has been classified as Green List (High Evidence).
Mode of inheritance for gene: CNBP was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for CNBP was changed to Other - please provide details in the comments
This gene has been classified as Green List (High Evidence).
CNBP was added to Distal myopathiespanel. Sources: Expert Review
CNBP was created by arianna