PNPLA6

patatin like phospholipase domain containing 6
OMIM: 603197, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green PNPLA6 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.36

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


Version 2.234
Latest signed off version: v2.23 (8 Oct 2020)

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


    Version 2.7
    Latest signed off version: v2.2 (3 Mar 2020)

    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


    Version 2.57
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.241

    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 1.257

    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 Hereditary spastic paraplegia - childhood onset


    Version 2.82
    Latest signed off version: v2.18 (8 Oct 2020)

    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 Hereditary spastic paraplegia - adult onset


    Version 1.72
    Latest signed off version: v1.27 (5 Aug 2021)

    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 Neurodegenerative disorders - adult onset


    Version 2.196
    Latest signed off version: v2.178 (5 Aug 2021)

    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

    Amber PNPLA6 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.415

    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

    Red PNPLA6 in Growth failure in early childhood


    Version 1.71
    Latest signed off version: v1.4 (3 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism

    Green PNPLA6 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 - adult onset


    Version 2.85
    Latest signed off version: v2.13 (6 Oct 2020)

    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

    Amber PNPLA6 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.209
    Latest signed off version: v2.195 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Boucher-Neuhauser syndrome, OMIM:215470
    • Oliver-McFarlane syndrome, OMIM:275400
    • ?Laurence-Moon syndrome, OMIM:245800
    Tags
    • for-review

    Amber PNPLA6 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.61
    Latest signed off version: v1.36 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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 or chorea or related movement disorder


    Version 1.156
    Latest signed off version: v1.137 (5 Aug 2021)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green PNPLA6 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Laurence-Moon syndrome, 245800
    • Spastic paraplegia 39, autosomal recessive, 612020
    • Boucher-Neuhauser syndrome, 215470
    • Oliver-McFarlane syndrome, 275400