1. Panels
  2. Fetal anomalies
  3. CNBP
Genes in panel
Prev Next

Fetal anomalies

Gene: CNBP

Red List (low evidence)
CNBP (CCHC-type zinc finger nucleic acid binding protein)
EnsemblGeneIds (GRCh38): ENSG00000169714
EnsemblGeneIds (GRCh37): ENSG00000169714
OMIM: 116955, Gene2Phenotype
CNBP is in 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. Confirmed with Rhiannon Mellis (GOSH) that the CNBP gene should remain as Red.
Created: 27 Jan 2022, 5:25 p.m. | Last Modified: 27 Jan 2022, 5:25 p.m.
Panel Version: 1.826
Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity. STR added separately.
Created: 9 Nov 2021, 11:24 a.m. | Last Modified: 9 Nov 2021, 11:58 a.m.
Panel Version: 1.801
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 10:35 a.m. | Last Modified: 9 Nov 2021, 10:35 a.m.
Panel Version: 1.797
Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 10:58 a.m. | Last Modified: 1 Feb 2021, 10:58 a.m.
Panel Version: 1.314
Created: 1 Feb 2021, 10:58 a.m.
Last Modified: 9 Nov 2021, 11:58 a.m.
Panel version: 1.826

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.

Green on related panel(s): Neuromuscular disorders
Sources: Expert list
Created: 29 Jan 2021, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myotonic dystrophy 2, 602668

Created: 29 Jan 2021, 11:44 a.m.

Panel version: 1.229

Details

Mode of Inheritance
Other
Sources
  • Expert Review Red
Phenotypes
  • Myotonic dystrophy 2, OMIM:602668
Tags
nucleotide-repeat-expansion
OMIM
116955
Clinvar variants
Variants in CNBP
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

23 Jan 2024, Gel status: 1

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag currently-ngs-unreportable was removed from gene: CNBP.

9 Nov 2021, Gel status: 1

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CNBP. Tag currently-ngs-unreportable tag was added to gene: CNBP.

9 Nov 2021, Gel status: 1

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: CNBP.

9 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cnbp has been classified as Red List (Low Evidence).

9 Nov 2021, Gel status: 1

Set mode of pathogenicity

Arina Puzriakova (Genomics England Curator)

Mode of pathogenicity for gene: CNBP was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

9 Nov 2021, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cnbp has been classified as Red List (Low Evidence).

9 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668

9 Nov 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: cnbp has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: CNBP.

29 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: CNBP was added gene: CNBP was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668 Review for gene: CNBP was set to GREEN