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Severe Paediatric Disorders

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 8 panels

4 reviews

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

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)

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.