Genomics England

SPATA5L1

spermatogenesis associated 5 like 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPATA5L1-associated sensorineural hearing loss and intellectual disability
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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616, Deafness, autosomal recessive 119, OMIM:619615
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hearing loss and spasticity, OMIM:619616