PanelApp (staging)
  1. Genes and Genomic Entities
  2. RELN

RELN

reelin
OMIM: 600514, ClinGen, DECIPHER

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green RELN in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Lissencephaly 2 (Norman-Roberts type), MIM# 257320

    Red RELN in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.205

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 2 (Norman-Roberts type), MIM# 257320
    • ASD

    Green RELN in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 2 (Norman-Roberts type), MIM# 257320

    Green RELN in Mendeliome


    Version 1.2302

    		3 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Lissencephaly 2 (Norman-Roberts type), MIM# 257320
    • {Epilepsy, familial temporal lobe, 7}, MIM# 616436
    • ankylosing spondylitis

    Green RELN in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • {Epilepsy, familial temporal lobe, 7}, MIM# 616436
    • MONDO:0014639

    Green RELN in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

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

    Green RELN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Lissencephaly 2 (Norman-Roberts type), MIM# 257320

    Red RELN in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Myoclonus-dystonia syndrome MONDO:0000903

    Red RELN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Lissencephaly syndrome

    Green RELN in Fetal anomalies


    Version 1.313

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Lissencephaly 2 (Norman-Roberts type), MIM# 257320

    Red RELN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Lissencephaly syndrome