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 8.0	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 Signed-off version 9.56	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 41, OMIM:615637, macrocephaly-developmental delay syndrome, MONDO:0014289