DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A
OMIM: 600855, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber DYRK1A in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.6 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Expert list Phenotypes Mental retardation, autosomal dominant 7, 614104
Green DYRK1A in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Other Phenotypes microcephaly Mental retardation, autosomal dominant 7, 614104 Tags deletions
Green DYRK1A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green DYRK1A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104
Green DYRK1A in Early onset or syndromic epilepsy Level 2: Neurology Version 8.120 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Expert Review Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green DYRK1A in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 7, 614104 MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Amber DYRK1A in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Intellectual developmental disorder, autosomal dominant 7, OMIM:614104 Retinal disorder, MONDO:0005283 Tags Q3_25_NHS_review Q3_25_promote_green
Green DYRK1A in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Mental retardation, autosomal dominant 7, OMIM:614104