Skeletal Muscle Channelopathies

STR: CNBP_CCTG

Red List (low evidence)

Chromosome: 3
GRCh37 Position: 128891420-128891499
GRCh38 Position: 129172577-129172656
Repeated Sequence: CAGG
Normal Number of Repeats: < or = 26
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

2 reviews

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.

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

Details

Name
CNBP_CCTG
Chromosome
3
GRCh37 Coordinates
128891420-128891499
GRCh38 Coordinates
129172577-129172656
Repeated Sequence
CAGG
Normal Number of Repeats: < or =
26
Pathogenic Number of Repeats: = or >
75
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
  • Myotonic dystrophy type 2, MONDO:0011266
Tags
STR NGS Not Validated
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
None

History Filter Activity

24 Nov 2020, Gel status: 1

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: 1

Added Tag

Louise Daugherty (Genomics England Curator)

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

6 Jun 2018, Gel status: 1

Changed Repeated Sequence

Ellen McDonagh (Genomics England Curator)

Repeated Sequence for CNBP_CCTG was changed from CCTG to CAGG. Panel: Skeletal Muscle Channelopathies

1 Jun 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: CNBP_CCTG. Panel: Skeletal Muscle Channelopathies

1 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: CNBP_CCTG was added to Skeletal Muscle Channelopathies panel. Sources: Expert list

1 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: CNBP_CCTG was created by Ellen McDonagh