Genomics England

DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R59 Signed-off version 6.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Mental retardation, autosomal dominant 7, 614104, MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes microcephaly, Mental retardation, autosomal dominant 7, 614104
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Mental retardation, autosomal dominant 7, OMIM:614104