Gastrointestinal neuromuscular disorders
Gene: RAD21
RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 14 panels
1 review
Zornitza Stark (Australian Genomics)
Mono-allelic variants are associated with CdL but bi-allelic variants are associated with Mungan syndrome, which includes pseudo-obstruction.
Sources: Expert ReviewCreated: 31 Jul 2021, 1:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mungan syndrome, MIM# 611376
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Mungan syndrome, MIM# 611376
- OMIM
- 606462
- Clinvar variants
- Variants in RAD21
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Haematological malignancies cancer susceptibility
- Gastrointestinal neuromuscular disorders
- Skeletal dysplasia
- Fetal anomalies
- Clefting
- Severe microcephaly
- Paediatric pseudo-obstruction syndrome
- Monogenic short stature
- Holoprosencephaly - NOT chromosomal
- Radial dysplasia
- Intellectual disability
History Filter Activity
31 Jul 2021, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: RAD21 was added gene: RAD21 was added to Gastrointestinal neuromuscular disorders. Sources: Expert Review Mode of inheritance for gene: RAD21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAD21 were set to 14638363; 32193685; 25575569 Phenotypes for gene: RAD21 were set to Mungan syndrome, MIM# 611376 Review for gene: RAD21 was set to GREEN