Skeletal dysplasia

Gene: RAD21

Green List (high evidence)

Mono-allelic variants are associated with CdL but bi-allelic variants are associated with Mungan syndrome, which includes pseudo-obstruction.

Created: 21 Jul 2021, 10:11 a.m. | Last Modified: 21 Jul 2021, 10:11 a.m.

Panel Version: 0.8460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mungan syndrome, MIM# 611376: Barrett esophagus, megaduodenum, cardiac abnormalities

Publications

• 14638363
• 32193685
• 25575569

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for CRANIOECTODERMAL DYSPLASIA. At least 4 variants reported.

Created: 2 Jul 2020, 1 p.m. | Last Modified: 2 Jul 2020, 1 p.m.

Panel Version: 0.3202

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cornelia de Lange syndrome 4 614701

Publications

• 31334757
• 31704779

Green List (high evidence)

Holoprocencephaly reported in two patients, however clinical overlap with Cornelia de Lange was also noted

Single reported family with Mungan syndrome (also known as intestinal pseudoobstruction) had a homozygous missense (PMID: 25575569). Carriers of this same variant were reported with clinical features of Cornelia de Lange (PMID: 32193685).

Multiple reports of intrafamilial variation

Missense cluster within the C-terminal SMC1A domain

PTCs are commonly inherited from affected parents. CNVs are commonly reported.

Created: 9 Jun 2020, 10:47 p.m. | Last Modified: 9 Jun 2020, 10:47 p.m.

Panel Version: 0.3049

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
?Mungan syndrome, 611376; Cornelia de Lange syndrome 4, 614701; Holoprocencephaly

Publications

• PMID: 31334757
• 25575569
• 32193685