Familial diabetes
Gene: DYRK1BEnsemblGeneIds (GRCh38): ENSG00000105204
EnsemblGeneIds (GRCh37): ENSG00000105204
OMIM: 604556, Gene2Phenotype
DYRK1B is in 3 panels
1 review
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green as advised via email communication with Jane Houghton (South West GLH).Created: 28 Jan 2019, 9:39 a.m.
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: DYRK1B; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes).Created: 11 Jan 2019, 10:04 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Abdominal obesity-metabolic syndrome 3, 615812
- OMIM
- 604556
- Clinvar variants
- Variants in DYRK1B
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: DYRK1B were changed from to Abdominal obesity-metabolic syndrome 3, 615812
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: DYRK1B was added gene: DYRK1B was added to Familial diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown