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 Signed-off version 9.56	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 8.0	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: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 2.8	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 9.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154