Genomics England

PNPLA6

patatin like phospholipase domain containing 6

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	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 6.3	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 6.4	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 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PNPLA6-related Disorder
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Hereditary Neuropathies, Childhood onset of slowly progressive spastic paraplegia, progressive distal motor neuropathy beginning in early through late adolescence
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 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 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Boucher-Neuhauser syndrome, OMIM:215470, Oliver-McFarlane syndrome, OMIM:275400, ?Laurence-Moon syndrome, OMIM:245800