Skeletal Muscle Channelopathies
STR: CNBP_CCTGGRCh37 Position: 128891420-128891499
GRCh38 Position: 129172577-129172656
Repeated Sequence: CCTG
Normal Number of Repeats: < 27
Pathogenic Number of Repeats: = or > 75
CNBP (CCHC-type zinc finger nucleic acid binding protein)
EnsemblGeneIds (GRCh38): ENSG00000169714
EnsemblGeneIds (GRCh37): ENSG00000169714
OMIM: 116955, Gene2Phenotype
CNBP is in 0 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The repeated sequence of this STR has been updated from 'CAGG' to 'CCTG' to match the sequence on the coding strand of the gene. This update was made following NHS Genomic Medicine Service approval.Created: 10 Mar 2025, 11:14 a.m. | Last Modified: 10 Mar 2025, 11:14 a.m.
Panel Version: 1.47
Sarah Leigh (Genomics England Curator)
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: 1.45
Eleanor Williams (Genomics England Curator)
STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.Created: 15 Mar 2022, 12:52 p.m. | Last Modified: 15 Mar 2022, 12:52 p.m.
Panel Version: 1.45
Louise Daugherty (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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
Phenotypes
Myotonic dystrophy 2 602668
Variants in this STR are reported as part of current diagnostic practice
Details
- Name
- CNBP_CCTG
- Chromosome
- 3
- GRCh37 Coordinates
- 128891420-128891499
- GRCh38 Coordinates
- 129172577-129172656
- Repeated Sequence
- CCTG
- Normal Number of Repeats: <
- 27
- Pathogenic Number of Repeats: = or >
- 75
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Expert list
- Phenotypes
-
- Myotonic dystrophy 2, OMIM:602668
- Myotonic dystrophy type 2, MONDO:0011266
- Tags
- OMIM
- 116955
- Clinvar variants
- Variants in CNBP
- Penetrance
- None
History Filter Activity
Changed Repeated Sequence
Achchuthan Shanmugasundram (Genomics England Curator)Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Str: cnbp_cctg has been classified as Green List (High Evidence).
Removed Tag
Sarah Leigh (Genomics England Curator)Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Changed Normal Number of Repeats, Added New Source, Added New Source
Arina Puzriakova (Genomics England Curator)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.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Added Tag
Louise Daugherty (Genomics England Curator)Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Changed Repeated Sequence
Ellen McDonagh (Genomics England Curator)Repeated Sequence for CNBP_CCTG was changed from CCTG to CAGG. Panel: Skeletal Muscle Channelopathies
Added Tag
Ellen McDonagh (Genomics England Curator)STR was added to STR: CNBP_CCTG. Panel: Skeletal Muscle Channelopathies
Added New Source
Ellen McDonagh (Genomics England Curator)STR: CNBP_CCTG was added to Skeletal Muscle Channelopathies panel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)STR: CNBP_CCTG was created by Ellen McDonagh