Genomics England

chromosome 12 open reading frame 66

Panel	Mode of inheritance	Details
Filter panels3 panels
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 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 10.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Intellectual developmental disorder, autosomal recessive 83, OMIM:621100