Genomics England

KIAA1109

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Alkuraya-Kucinskas syndrome 617822
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brain atrophy, Dandy Walker and Contractures
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 5.10	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Alkuraya-Kucinskas syndrome 617822, seizures
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome, 617822
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Alkuraya-Kucinskas syndrome, OMIM:617822
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brain atrophy, Dandy Walker and Contractures, Alkuraya-Kucinskas syndrome,617822
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Alkuraya-Kucinskas syndrome