Paroxysmal central nervous system disorders
Gene: CNBPThe mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.Created: 8 Mar 2022, 4:30 p.m. | Last Modified: 8 Mar 2022, 4:30 p.m.
Panel Version: 1.36
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 10:36 a.m. | Last Modified: 9 Nov 2021, 10:36 a.m.
Panel Version: 1.23
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
Other - please specifiy in evaluation comments
Phenotypes
Myotonia; MYOTONIC DYSTROPHY 2 (DM2)
Tag currently-ngs-unreportable was removed from gene: CNBP.
Mode of inheritance for gene CNBP was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Mode of inheritance for gene: CNBP was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag nucleotide-repeat-expansion tag was added to gene: CNBP. Tag currently-ngs-unreportable tag was added to gene: CNBP.
Phenotypes for gene: CNBP were changed from Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Gene: cnbp has been classified as Red List (Low Evidence).
Source NHS GMS was added to CNBP.
Source London North GLH was added to CNBP.
Source Wessex and West Midlands GLH was added to CNBP.
Added phenotypes Myotonia; MYOTONIC DYSTROPHY 2 (DM2) for gene: CNBP
gene: CNBP was added gene: CNBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: CNBP was set to Other - please specifiy in evaluation comments Phenotypes for gene: CNBP were set to Myotonia; MYOTONIC DYSTROPHY 2 (DM2)