Genomics England

seryl-tRNA synthetase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709, Autosomal dominant SARS1-related neurodevelopmental disorder
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 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes hereditary peripheral neuropathy, MONDO:0020127
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709