PNPLA6

patatin like phospholipase domain containing 6
OMIM: 603197
PanelMode of inheritanceDetails
6 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
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
R-numbers: R54
Signed-off version 2.13
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
R-numbers: R60
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 39, autosomal recessive, 612020
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 39, autosomal recessive, 612020
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Boucher-Neuhauser syndrome, 215470, Oliver-McFarlane syndrome, 275400, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
R-numbers: R159
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Boucher-Neuhauser syndrome (215470), Oliver-McFarlane syndrome (275400), Spastic paraplegia 39, autosomal recessive (612020)