Distal myopathiesSTR: CNBP_CCTG
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 12:51 p.m. | Last Modified: 15 Mar 2022, 12:51 p.m.
Panel Version: 1.45
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: 1.11
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.
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: 31 May 2018, 12:50 p.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
Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27. Source Expert Review Red was added to STR: CNBP_CCTG. Source NHS GMS was added to STR: CNBP_CCTG.
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: Distal myopathies
STR was added to STR: CNBP_CCTG. Panel: Distal myopathies
STR: CNBP_CCTG was added to Distal myopathies panel. Sources: Expert list
STR: CNBP_CCTG was created by Ellen McDonagh