Holoprosencephaly

Gene: RAD21

Amber List (moderate evidence)

RAD21 (RAD21 cohesin complex component)
EnsemblGeneIds (GRCh38): ENSG00000164754
EnsemblGeneIds (GRCh37): ENSG00000164754
OMIM: 606462, Gene2Phenotype
RAD21 is in 12 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). At least 3 unrelated individuals reported in literature with different heterozygous KMT2D variants and holoprosencephaly, which may be observed with or without overt features of CdLS. Sufficient to rate this gene as Green at the next GMS panel update.
Created: 14 Sep 2021, 3:35 p.m. | Last Modified: 14 Sep 2021, 3:35 p.m.
Panel Version: 2.23
Comment on publications: PMID: 32696056 (2020) - fourth unrelated individual reported presenting holoprosencephaly associated with a heterozygous RAD21 LoF variant
Created: 14 Sep 2021, 3:35 p.m. | Last Modified: 14 Sep 2021, 3:35 p.m.
Panel Version: 2.22

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
  • Expert Review Amber
Phenotypes
  • Cornelia de Lange syndrome 4, OMIM:614701
  • Holoprosencephaly with or without CdLS features
  • Septo-optic dysplasia
Tags
Q3_21_rating
OMIM
606462
Clinvar variants
Variants in RAD21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: RAD21.

14 Sep 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rad21 has been classified as Amber List (Moderate Evidence).

14 Sep 2021, Gel status: 0

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: RAD21 were set to 31334757

14 Sep 2021, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RAD21 were changed from Holoprosencephaly; Septo-optic dysplasia to Cornelia de Lange syndrome 4, OMIM:614701; Holoprosencephaly with or without CdLS features; Septo-optic dysplasia

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