Paroxysmal central nervous system disorders
Gene: MOG
In a single large Spanish family across 4 generations. All 11 affected members studied and 1 who did not completely fulfill the diagnostic criteria for narcolepsy carried the mutation, whereas all 14 unaffected family members studied did not have the mutation. Is this sufficient evidence? If not then it should be amber.Created: 1 Oct 2019, 12:20 p.m. | Last Modified: 1 Oct 2019, 12:20 p.m.
Panel Version: 0.158
Narcolepsy - Good segregation in large spanish family (4 generations) ? Enough evidence as only one family.Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Green or Amber depending on level of evidence.Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95
Comment on list classification: Kept rating as Amber based on consensus GLH review- insufficient evidence for Green rating.Created: 1 Oct 2019, 12:23 p.m. | Last Modified: 1 Oct 2019, 12:23 p.m.
Panel Version: 0.159
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 30th 2019) on behalf of London North GLH for the GMS Neurology specialist test group for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: None submitted but comment suggests Amber. This is a gene that was re-reviewed to reach a consensus, and therefore the rating by Robyn Labrum has changed from Green to Amber in PanelApp.Created: 1 Oct 2019, 12:22 p.m. | Last Modified: 1 Oct 2019, 12:22 p.m.
Panel Version: 0.158
PMID:21907016: In affected members of a large Spanish family with narcolepsy and cataplexy, Hor et al. (2011) identified a heterozygous 398C-G transversion in the MOG gene (p.S133C). 12 family members had narcolepsy and cataplexy, 7 of whom were obese and 4 of whom had type 2 diabetes. All 11 affected members studied (plus 1 who did not completely fulfill the diagnostic criteria for narcolepsy) carried the variant, whereas all 14 unaffected family members studied did not have the variant.Created: 24 Sep 2019, 1:29 p.m. | Last Modified: 24 Sep 2019, 1:29 p.m.
Panel Version: 0.151
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Green.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. A question mark was submitted for the rating because of a question over the level of evidence, therefore I uploaded an Amber review from Penny Clouston.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
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
Insufficient evidence for green?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Narcolepsy 7, 614250
Publications
Gene: mog has been classified as Amber List (Moderate Evidence).
Gene: mog has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: MOG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Source NHS GMS was added to MOG.
Source London North GLH was added to MOG.
Source Wessex and West Midlands GLH was added to MOG.
Added phenotypes Narcolepsy 7, 614250 for gene: MOG
gene: MOG was added gene: MOG was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Amber Mode of inheritance for gene: MOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MOG were set to 21907016 Phenotypes for gene: MOG were set to Narcolepsy 7, 614250