RAD21

RAD21 cohesin complex component
OMIM: 606462, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green RAD21 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	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 0.430	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 1.17	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 0.46	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 1.2302	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 1.295	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 1.15 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 1.63	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 0.302	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 1.24 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 1.76	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 0.76 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 1.313	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