PanelApp (test)
  1. Genes and Genomic Entities
  2. PNPLA6:Ensemblv90

PNPLA6:Ensemblv90

patatin like phospholipase domain containing 6
OMIM: 603197, ClinGen, DECIPHER

31 panels

Panel Reviews Mode of inheritance Details
31 panels

Amber PNPLA6 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.44

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149

    Amber PNPLA6 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.405

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Spastic paraplegia 39 MIM#612020

    Green PNPLA6 in Mendeliome


    Version 1.3802

    		4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155
    • Spastic paraplegia 39, autosomal recessive MIM#612020

    Red PNPLA6 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.297

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Laurence-Moon syndrome - MIM#245800
    • Boucher-Neuhauser syndrome - MIM#215470
    • Oliver-McFarlane syndrome - #275400
    • Spastic paraplegia 39, autosomal recessive - #612020

    Green PNPLA6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PNPLA6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155

    Green PNPLA6 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
    • Boucher-Neuhauser syndrome, 215470
    • Sapstic paraplegia 39, 612020
    • Oliver-McFarlane syndrome (#603197)
    • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
    • Oliver-McFarlane syndrome, 275400

    Green PNPLA6 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Boucher-Neuhauser syndrome MIM#215470
    • Laurence-Moon syndrome MIM#245800
    • Oliver-McFarlane syndrome MIM#275400
    • Spastic paraplegia 39, autosomal recessive MIM#612020

    Green PNPLA6 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.17

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 39, autosomal recessive, 612020

    Amber PNPLA6 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.130

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spastic paraplegia 39, autosomal recessive, MIM# 612020

    Green PNPLA6 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.45

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Laurence-Moon Syndrome (LMS) MIM#245800
    • Spastic Paraplegia Type 39 MIM#612020

    Green PNPLA6 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.235

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • RetNet
    • Expert list
    Phenotypes
    • Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155

    Green PNPLA6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Boucher-Neuhauser syndrome, 215470 (3)

    Green PNPLA6 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 0.166

    		4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Expert list
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Oliver-McFarlane syndrome (275400)
    • Spastic paraplegia 39, autosomal recessive (612020)
    • Boucher-Neuhauser syndrome (215470)

    Green PNPLA6 in Growth failure


    Version 1.87

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Oliver-McFarlane syndrome, MIM# 275400
    • Laurence-Moon syndrome, MIM# 245800

    Amber PNPLA6 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Oliver-McFarlane syndrome - MIM#275400

    Green PNPLA6 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Boucher-Neuhauser syndrome MIM#215470
    • Oliver-McFarlane syndrome MIM#275400
    • Spastic paraplegia 39, autosomal recessive MIM#612020

    Amber PNPLA6 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • PNPLA6-related spastic paraplegia with or without ataxia MONDO:0100149

    Amber PNPLA6 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Spastic paraplegia 39 MIM#612020

    Red PNPLA6 in Polydactyly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Laurence-Moon syndrome - MIM#245800
    • Boucher-Neuhauser syndrome - MIM#215470
    • Oliver-McFarlane syndrome - #275400
    • Spastic paraplegia 39, autosomal recessive - #612020

    Green PNPLA6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green PNPLA6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155

    Green PNPLA6 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Green
    • Expert list
    • Expert Review Green
    Phenotypes
    • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
    • Boucher-Neuhauser syndrome, 215470
    • Sapstic paraplegia 39, 612020
    • Oliver-McFarlane syndrome (#603197)
    • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
    • Oliver-McFarlane syndrome, 275400

    Green PNPLA6 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert list
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia 39, autosomal recessive, 612020

    Amber PNPLA6 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • Spastic paraplegia 39, autosomal recessive, MIM# 612020

    Green PNPLA6 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Laurence-Moon Syndrome (LMS) MIM#245800
    • Spastic Paraplegia Type 39 MIM#612020

    Green PNPLA6 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 1.0

    		3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • RetNet
    • Expert list
    • Expert Review Green
    Phenotypes
    • Retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome MONDO:0100155

    Green PNPLA6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Boucher-Neuhauser syndrome, 215470 (3)

    Green PNPLA6 in Pituitary hormone deficiency

    Level 3: Pituitary disorders
    Level 2: Endocrine disorders
    Version 1.0

    		4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert list
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Oliver-McFarlane syndrome (275400)
    • Spastic paraplegia 39, autosomal recessive (612020)
    • Boucher-Neuhauser syndrome (215470)

    Green PNPLA6 in Growth failure


    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Oliver-McFarlane syndrome, MIM# 275400
    • Laurence-Moon syndrome, MIM# 245800

    Green PNPLA6 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Boucher-Neuhauser syndrome MIM#215470
    • Oliver-McFarlane syndrome MIM#275400
    • Spastic paraplegia 39, autosomal recessive MIM#612020