CELSR1

cadherin EGF LAG seven-pass G-type receptor 1
OMIM: 604523, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CELSR1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.328

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 9, MIM# 619319

Green CELSR1 in Mendeliome


Version 1.4541

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphatic malformation 9 (MIM#619319)
  • Neurodevelopmental disorder, MONDO:0700092, CELSR1-related

Green CELSR1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.384

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), CELSR1-related

    Green CELSR1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.699

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), CELSR1-related

    Green CELSR1 in Lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.32

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    • Expert Review Green
    • Literature
    Phenotypes
    • Lymphatic malformation 9, MIM# 619319

    Green CELSR1 in Fetal anomalies


    Version 1.542

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Lymphatic malformation 9, MIM# 619319