Genomics England

SPOUT domain containing methyltransferase 1

Panel	Mode of inheritance	Details
Filter panels5 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 Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
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 Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Green in Monogenic short stature R-numbers: R453 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Green in Severe microcephaly R-numbers: R88 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154