1. Panels
  2. White matter disorders and cerebral calcification - narrow panel
  3. CNP
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

White matter disorders and cerebral calcification - narrow panel

Gene: CNP

Amber List (moderate evidence)
CNP (2',3'-cyclic nucleotide 3' phosphodiesterase)
EnsemblGeneIds (GRCh38): ENSG00000173786
EnsemblGeneIds (GRCh37): ENSG00000173786
OMIM: 123830, Gene2Phenotype
CNP is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Created: 2 Jun 2021, 1 p.m. | Last Modified: 2 Jun 2021, 1 p.m.
Panel Version: 1.134
Created: 2 Jun 2021, 1 p.m.
Last Modified: 2 Jun 2021, 1 p.m.
Panel version: 1.134

Zornitza Stark (Australian Genomics)

I don't know

Single consanguineous family described with homozygous missense in affected child (additional two affected deceased offspring unavailable for testing; healthy carrier parents and sibling).
Loss of protein by Western blot and defect in F-actin structure and organization observed in patient fibroblasts.
Deficiency of CNP in mouse has previously been shown to cause a lethal white matter neurodegenerative phenotype (PMID: 12590258), similar to the phenotype observed in this family.
Sources: Literature
Created: 3 Jun 2020, 10:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomyelinating leukodystrophy

Publications

Created: 3 Jun 2020, 10:55 a.m.

Panel version: 1.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Leukodystrophy, hypomyelinating, 20, OMIM:619071
Tags
watchlist
OMIM
123830
Clinvar variants
Variants in CNP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Jun 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: CNP.

2 Jun 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

2 Jun 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: CNP were changed from Hypomyelinating leukodystrophy to ?Leukodystrophy, hypomyelinating, 20, OMIM:619071

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: CNP was added gene: CNP was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature Mode of inheritance for gene: CNP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNP were set to 32128616; 12590258 Phenotypes for gene: CNP were set to Hypomyelinating leukodystrophy Review for gene: CNP was set to AMBER