PanelApp (test)
  1. Genes and Genomic Entities
  2. RAD21:Ensemblv90

RAD21:Ensemblv90

RAD21 cohesin complex component
OMIM: 606462, ClinGen, DECIPHER

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green RAD21 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.18

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 4, MIM# 614701

Green RAD21 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

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

Green RAD21 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Holoprosencephaly
  • Septo-optic dysplasia

Green RAD21 in Hypertrichosis syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cornelia de Lange syndrome 4, MIM # 614701

Green RAD21 in Mendeliome


Version 1.3802

3 reviews BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mungan syndrome, 611376
  • Cornelia de Lange syndrome 4, 614701
  • Holoprocencephaly

Green RAD21 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cornelia de Lange syndrome 4, MIM# 614701

Green RAD21 in Radial Ray Abnormalities


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM# 614701

    Green RAD21 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM # 614701

    Amber RAD21 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.365

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Expert list
    • Emory Genetics Laboratory
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cornelia de Lange syndrome 4 614701

    Green RAD21 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 1.25

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities

    Green RAD21 in Growth failure


    Version 1.87

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM # 614701

    Green RAD21 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.80

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cornelia de Lange syndrome 4 614701

    Green RAD21 in Fetal anomalies


    Version 1.482

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM# 614701
    • Holoprosencephaly

    Green RAD21 in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM# 614701

    Green RAD21 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

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

    Green RAD21 in Holoprosencephaly and septo-optic dysplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		4 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Holoprosencephaly
    • Septo-optic dysplasia

    Green RAD21 in Hypertrichosis syndromes


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM # 614701

    Green RAD21 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM# 614701

    Green RAD21 in Radial Ray Abnormalities


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM# 614701

    Amber RAD21 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    • Expert Review Amber
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4 614701

    Green RAD21 in Gastrointestinal neuromuscular disease


    Level 2: Gastroenterological disorders
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities

    Green RAD21 in Growth failure


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4, MIM # 614701

    Green RAD21 in Hand and foot malformations


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert list
    • Expert Review Green
    Phenotypes
    • Cornelia de Lange syndrome 4 614701