RAD21 (Q18031010)

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protein-coding gene in the species Homo sapiens
  • CDLS4
  • HR21
  • HRAD21
  • MCD1
  • NXP1
  • SCC1
  • hHR21
  • RAD21 cohesin complex component
  • MGS
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Language Label Description Also known as
English
RAD21
protein-coding gene in the species Homo sapiens
  • CDLS4
  • HR21
  • HRAD21
  • MCD1
  • NXP1
  • SCC1
  • hHR21
  • RAD21 cohesin complex component
  • MGS

Statements

genetic association
Cornelia de Lange syndrome
determination method or standard
case study
13 references
PubMed publication ID
32193685
stated in
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21
PubMed publication ID
27620904
stated in
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
PubMed publication ID
25125236
stated in
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
PubMed publication ID
24378232
stated in
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case
PubMed publication ID
27882533
stated in
A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.
PubMed publication ID
30716475
stated in
A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype
PubMed publication ID
22633399
stated in
RAD21 mutations cause a human cohesinopathy
PubMed publication ID
31334757
stated in
Cohesin complex-associated holoprosencephaly
PubMed publication ID
30125677
stated in
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature
PubMed publication ID
30158690
stated in
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
PubMed publication ID
25326637
stated in
Clinical exome sequencing for genetic identification of rare Mendelian disorders
PubMed publication ID
25575569
stated in
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction
type of reference
review article
stated in
Cohesin Subunit RAD21: from Biology to Disease
Gene Atlas image
PBB GE RAD21 200608 s at fs.png
732 × 530; 12 KB
0 references
PBB GE RAD21 200607 s at fs.png
732 × 530; 12 KB
0 references
expressed in

Identifiers

Ensembl transcript ID
Freebase ID
/m/03gx51f
0 references
 
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