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Research panel - Severe Paediatric Disorders

STR: CNBP_CCTG

Green List (high evidence)
Chromosome: 3
GRCh37 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, 11:16 a.m. | Last Modified: 10 Mar 2025, 11:16 a.m.
Panel Version: 1.208
Created: 10 Mar 2025, 11:16 a.m.
Last Modified: 10 Mar 2025, 11:16 a.m.
Panel version: 1.208

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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, 2:45 p.m. | Last Modified: 23 Jan 2024, 2:45 p.m.
Panel Version: 1.179
Created: 23 Jan 2024, 2:45 p.m.
Last Modified: 23 Jan 2024, 2:45 p.m.
Panel version: 1.179

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
Created: 15 Mar 2022, 12:52 p.m.
Last Modified: 15 Mar 2022, 12:52 p.m.
Copied from panel: Skeletal Muscle Channelopathies v1.45

Louise Daugherty (Genomics England Curator)

Red List (low 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: 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.
Created: 11 Jan 2019, 1:27 p.m.

Copied from panel: Skeletal Muscle Channelopathies v1.45

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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

Created: 1 Jun 2018, 9:16 a.m.

Copied from panel: Skeletal Muscle Channelopathies v1.45

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
STR
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
None

History Filter Activity

10 Mar 2025, Gel status: 3

Changed Repeated Sequence

Achchuthan Shanmugasundram (Genomics England Curator)

Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.

23 Jan 2024, Gel status: 3

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag NGS Not Validated was removed from STR: CNBP_CCTG.

23 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

23 Jan 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

STR: CNBP_CCTG was added STR: CNBP_CCTG was added to Severe Paediatric Disorders. Sources: Expert list,NHS GMS,Expert Review Red STR, NGS Not Validated tags were added to STR: CNBP_CCTG. Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266