Genomics England

kaptin, actin binding protein

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES
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 4.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637, macrocephaly-developmental delay syndrome, MONDO:0014289
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637, macrocephaly-developmental delay syndrome, MONDO:0014289