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  3. RAD21
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Radial Ray Abnormalities

Gene: RAD21

Green List (high evidence)
RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Recent large series of over 40 affected individuals published. Radial ray abnormalities are part of the phenotype.
Sources: Expert list
Created: 23 Jul 2020, 7:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cornelia de Lange syndrome 4, MIM# 614701

Publications

Created: 23 Jul 2020, 7:56 a.m.

Panel version: 0.48

History Filter Activity

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad21 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rad21 has been classified as Green List (High Evidence).

23 Jul 2020, Gel status: 1

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 Radial Ray Abnormalities. Sources: Expert list Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD21 were set to 32193685 Phenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, MIM# 614701 Review for gene: RAD21 was set to GREEN