Skeletal muscle channelopathy
STR: CNBP_CCTG
As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.Created: 23 Jan 2024, 2:47 p.m. | Last Modified: 23 Jan 2024, 2:47 p.m.
Panel Version: 3.3
Added the tag of Q4_21_rating as this STR only had an expert review tag and would not be picked up for a GMS report with just that.Created: 3 Oct 2022, 1:13 p.m. | Last Modified: 3 Oct 2022, 1:13 p.m.
Panel Version: 1.39
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:53 p.m. | Last Modified: 15 Mar 2022, 12:53 p.m.
Panel Version: 1.39
The rating of this STR has been updated to Red following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 3:15 p.m. | Last Modified: 1 Feb 2023, 3:15 p.m.
Panel Version: 2.1
Tagged for GMS review as currently the performance of the pipeline for this STR is very poor on this locus and has not been validated for NGS. As this is a WGS panel this STR may need to be demoted to Red, which is also in line with the rating on other panels.Created: 9 Nov 2021, 1:47 p.m. | Last Modified: 9 Nov 2021, 1:47 p.m.
Panel Version: 1.33
As discussed in PanelApp team meeting a new tag "NGS Not Validated". This STR currently has not be validated within the Genomics England pipeline.Created: 12 Nov 2019, 3:34 p.m. | Last Modified: 12 Nov 2019, 3:34 p.m.
Panel Version: 0.26
STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS. It should be noted that this STR is currently not offered as part of the 100K RD Skeletal muscle channelopathy panel as is currently difficult to report this STR using the WGS EH pipeline because of the complex locus
Sources: Expert listCreated: 8 Nov 2019, 3:32 p.m. | Last Modified: 8 Nov 2019, 3:55 p.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 2, 602668
Publications
Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Tag NGS Not Validated was removed from STR: CNBP_CCTG. Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Str: cnbp_cctg has been classified as Red List (Low Evidence).
Tag Q4_21_expert_review was removed from STR: CNBP_CCTG. Tag Q4_21_rating was removed from STR: CNBP_CCTG.
Tag Q4_21_rating tag was added to STR: CNBP_CCTG.
Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27. Source NHS GMS was added to STR: CNBP_CCTG.
Tag Q4_21_expert_review tag was added to STR: CNBP_CCTG.
Tag STR tag was added to STR: CNBP_CCTG.
Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Str: cnbp_cctg has been classified as Green List (High Evidence).
STR: CNBP_CCTG was added STR: CNBP_CCTG was added to Myotonia congenita. Sources: Expert list Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: CNBP_CCTG were set to 18807109 Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, 602668 Review for STR: CNBP_CCTG was set to GREEN