Genomics England

PNPLA6

patatin like phospholipase domain containing 6

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 3.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 39, autosomal recessive, 612020
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Oliver-McFarlane syndrome (#603197), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 4.28	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spastic paraplegia 39, autosomal recessive, 612020
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PNPLA6-related Disorder
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Sapstic paraplegia 39, 612020, Oliver-McFarlane syndrome, 275400, Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome (#603197), Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome, 275400, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Green in Pituitary hormone deficiency R-numbers: R159 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Boucher-Neuhauser syndrome (215470), Oliver-McFarlane syndrome (275400), Spastic paraplegia 39, autosomal recessive (612020)
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Boucher-Neuhauser syndrome, OMIM:215470, Oliver-McFarlane syndrome, OMIM:275400, ?Laurence-Moon syndrome, OMIM:245800