Structural eye disease
Gene: DYRK1AThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.
Panel Version: 1.113
Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is enough evidence to support a gene-disease association. This gene should be promoted to Green status at the next review.Created: 20 Jan 2021, 10:53 a.m. | Last Modified: 20 Jan 2021, 10:53 a.m.
Panel Version: 1.42
Evers et al. 2017 described 3 individuals with coloboma/microphthalmia and de novo variants in DYRK1A among 20 individuals from the DDD study with DYRK1A haploinsufficiency syndrome. Laguna et al found that DYRK1A +/- mice have smaller eyes than their wildtype littermates.Created: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Evers et al. 2017 described 3 individuals with coloboma/microphthalmia and de novo variants in DYRK1A among 20 individuals from the DDD study with DYRK1A haploinsufficiency syndrome. Laguna et al found that DYRK1A +/- mice have smaller eyes than their wildtype littermates.Created: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Tag for-review was removed from gene: DYRK1A. Tag Q1_22_NHS_review was removed from gene: DYRK1A.
Source Expert Review Green was added to DYRK1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: DYRK1A.
Publications for gene: DYRK1A were set to 19081073; 28135719
Gene: dyrk1a has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DYRK1A.
gene: DYRK1A was added gene: DYRK1A was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DYRK1A were set to 19081073; 28135719 Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7, OMIM:614104