Skeletal muscle channelopathy

STR: CNBP_CCTG

Green List (high evidence)

Chromosome: 3
GRCh37 Position: 128891420-128891499
GRCh38 Position: 129172577-129172656
Repeated Sequence: CAGG
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 9 panels

3 reviews

Eleanor Williams (Genomics England Curator)

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

Arina Puzriakova (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 list
Created: 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

Details

Name
CNBP_CCTG
Chromosome
3
GRCh37 Coordinates
128891420-128891499
GRCh38 Coordinates
129172577-129172656
Repeated Sequence
CAGG
Normal Number of Repeats: <
27
Pathogenic Number of Repeats: = or >
75
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
STR NGS Not Validated Q4_21_expert_review
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
None
Publications

History Filter Activity

10 Mar 2022, Gel status: 3

Changed Normal Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27. Source NHS GMS was added to STR: CNBP_CCTG.

9 Nov 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_expert_review tag was added to STR: CNBP_CCTG.

24 Nov 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag STR tag was added to STR: CNBP_CCTG.

24 Nov 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

24 Nov 2020, Gel status: 3

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

12 Nov 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag NGS Not Validated tag was added to STR: CNBP_CCTG.

8 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Str: cnbp_cctg has been classified as Green List (High Evidence).

8 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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