Congenital diaphragmatic hernia
Gene: RAD21EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Diaphragmatic hernia is a feature of CdL, at least one individual specifically reported with RAD21 variant.Created: 21 Jun 2021, 7:39 a.m. | Last Modified: 21 Jun 2021, 7:39 a.m.
Panel Version: 0.68
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cornelia de Lange syndrome 4, MIM# 614701
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cornelia de Lange syndrome 4, MIM# 614701
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- None
- Publications
- Panels with this gene
-
- Radial Ray Abnormalities
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Microcephaly
- Congenital Heart Defect
- Gastrointestinal neuromuscular disease
- Mendeliome
- Congenital diaphragmatic hernia
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Growth failure
- Hand and foot malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rad21 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RAD21 were changed from to Cornelia de Lange syndrome 4, MIM# 614701
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAD21 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAD21 was added gene: RAD21 was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAD21 was set to Unknown