PNPLA6

patatin like phospholipase domain containing 6
OMIM: 603197, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green PNPLA6 in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.70	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism
Green PNPLA6 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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 PNPLA6 in Pituitary hormone deficiency Level 2: Endocrinology Version 4.4 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center Phenotypes Boucher-Neuhauser syndrome (215470) Oliver-McFarlane syndrome (275400) Spastic paraplegia 39, autosomal recessive (612020)
Red PNPLA6 in Limb disorders Level 2: Musculoskeletal Version 7.20 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Polydactyly
Green PNPLA6 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.344	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Oliver-McFarlane syndrome (#603197)
Green PNPLA6 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Spastic paraplegia 39, autosomal recessive
Green PNPLA6 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 39, autosomal recessive, 612020
Green PNPLA6 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 39, autosomal recessive, 612020
Red PNPLA6 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Spastic paraplegia 39, autosomal recessive Oliver-McFarlane syndrome (#603197) Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Green PNPLA6 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PNPLA6-related Disorder
Amber PNPLA6 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies Childhood onset of slowly progressive spastic paraplegia progressive distal motor neuropathy beginning in early through late adolescence
Green PNPLA6 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Boucher-Neuhauser syndrome, 215470 Oliver-McFarlane syndrome, 275400 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Green PNPLA6 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Hereditary ataxia v1.148 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 PNPLA6 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS RetNet Phenotypes Boucher-Neuhauser syndrome, OMIM:215470 Oliver-McFarlane syndrome, OMIM:275400 ?Laurence-Moon syndrome, OMIM:245800
Green PNPLA6 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS London North GLH South West GLH Emory Genetics Laboratory London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies Childhood onset of slowly progressive spastic paraplegia progressive distal motor neuropathy beginning in early through late adolescence
Red PNPLA6 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Red PNPLA6 in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism