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| Structural eye disease v1.113 | DYRK1A |
Ivone Leong Tag for-review was removed from gene: DYRK1A. Tag Q1_22_NHS_review was removed from gene: DYRK1A. |
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| Structural eye disease v1.113 | DYRK1A | Ivone Leong commented on gene: DYRK1A: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.112 | DYRK1A |
Ivone Leong Source Expert Review Green was added to DYRK1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.107 | DYRK1A | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | DYRK1A | Nicola Ragge edited their review of gene: DYRK1A: Added comment: 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.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.48 | DYRK1A | Sarah Leigh Publications for gene: DYRK1A were set to 19081073; 28135719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.42 | DYRK1A | Ivone Leong Classified gene: DYRK1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.42 | DYRK1A | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.42 | DYRK1A | Ivone Leong Gene: dyrk1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.41 | DYRK1A | Ivone Leong Tag for-review tag was added to gene: DYRK1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | DYRK1A | Nicola Ragge reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28135719, 19081073; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.28 | DYRK1A |
Ivone Leong 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 |
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