Holoprosencephaly

Gene: RAD21

No list

RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 11 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Three individuals reported with variants in this gene and HPE phenotype
Sources: Literature
Created: 24 Aug 2020, 9:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly; Septo-optic dysplasia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Holoprosencephaly
  • Septo-optic dysplasia
OMIM
606462
Clinvar variants
Variants in RAD21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Aug 2020, 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 Holoprosencephaly. 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 gene: RAD21 was marked as current diagnostic