Holoprosencephaly and septo-optic dysplasia
Gene: RAD21EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 13 panels
4 reviews
Arina Puzriakova (Genomics England)
PMID: 32696056 (2020) - fourth unrelated individual reported presenting holoprosencephaly associated with a heterozygous RAD21 LoF variantCreated: 14 Sep 2021, 3:38 p.m. | Last Modified: 14 Sep 2021, 3:38 p.m.
Panel Version: 1.1
Publications
Sarah Leigh (Genomics England)
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
Elena Savva (Victorian Clinical Genetics Services)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three individuals reported with variants in this gene and HPE phenotype. Note paper reports variants in other cohesinopathy genes also.
Sources: LiteratureCreated: 9 Jun 2020, 11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Holoprosencephaly; Septo-optic dysplasia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Holoprosencephaly
- Septo-optic dysplasia
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RAD21 were set to 31334757
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rad21 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rad21 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RAD21 was added gene: RAD21 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD21 were set to 31334757 Phenotypes for gene: RAD21 were set to Holoprosencephaly; Septo-optic dysplasia Review for gene: RAD21 was set to GREEN