Skeletal Muscle ChannelopathiesSTR: CNBP_CCTG
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: 1.21
From an update from Arianna Tucci: It was decided to demote this STR from Green to Red, it was decided NOT to analyse it as currently the performance of the pipeline for this STR is very poor on this locus.
Created: 11 Jan 2019, 1:27 p.m.
The nucleotide repeat sequence was changed from CCTG to CAGG, to reflect the sequence on the positive chromosomal strand. Genome sequencing variant calls are provided on the positive strand and therefore this is required for analysis. As this repeat is known as 'CCTG' by the clinical community, we have decided to keep the name as 'CNBP_CCTG'.
Created: 6 Jun 2018, 1:36 p.m.
Comments from Arianna Tucci: The CCTG repeat tract in normal alleles typically contains one or more tetranucleotide interruptions. The sequence interruptions that are routinely found within the CCTG tracts of normal alleles are not found in sequenced pathogenic CCTG expansions of CNBP alleles. On transmission to the next generation, CNBP repeat length sometimes diminishes dramatically, without significant differences determined by the gender of the transmitting parent.
Created: 1 Jun 2018, 9:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Myotonic dystrophy 2 602668
Variants in this STR are reported as part of current diagnostic practice
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.
Repeated Sequence for CNBP_CCTG was changed from CCTG to CAGG. Panel: Skeletal Muscle Channelopathies
STR was added to STR: CNBP_CCTG. Panel: Skeletal Muscle Channelopathies
STR: CNBP_CCTG was added to Skeletal Muscle Channelopathies panel. Sources: Expert list
STR: CNBP_CCTG was created by Ellen McDonagh