PanelApp
  1. Genes and Genomic Entities
  2. PIGL

PIGL

phosphatidylinositol glycan anchor biosynthesis class L
OMIM: 605947, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PIGL in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.50

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • CHIME syndrome, MIM# 280000, MONDO:0010221
Tags
  • SV/CNV
  • founder

Green PIGL in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.78

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • CHIME syndrome, MIM# 280000, MONDO:0010221
    Tags
    • SV/CNV
    • founder

    Green PIGL in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.474

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • CHIME syndrome, MIIM# 280000

    Green PIGL in Ichthyosis


    Level 2: Dermatological disorders
    Version 1.13

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • CHIME syndrome, MIM# 280000, MONDO:0010221
    Tags
    • SV/CNV
    • founder

    Green PIGL in Mendeliome


    Version 1.3499

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • CHIME syndrome, MIM# 280000, MONDO:0010221
    Tags
    • SV/CNV
    • founder

    Green PIGL in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • CHIME syndrome, MIM# 280000, MONDO:0010221
    Tags
    • SV/CNV
    • founder

    Green PIGL in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • CHIME syndrome, 280000 (3)

    Red PIGL in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • CHIME
    • COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME

    Green PIGL in Fetal anomalies


    Version 1.465

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • CHIME syndrome, MIM# 280000, MONDO:0010221
    Tags
    • SV/CNV

    Green PIGL in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • CHIME syndrome, MIM# 280000, MONDO:0010221