Holoprosencephaly - NOT chromosomal
Gene: RAD21The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:45 p.m. | Last Modified: 14 Mar 2022, 1:45 p.m.
Panel Version: 2.27
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 variantCreated: 14 Sep 2021, 3:35 p.m. | Last Modified: 14 Sep 2021, 3:35 p.m.
Panel Version: 2.22
Three individuals reported with variants in this gene and HPE phenotype
Sources: LiteratureCreated: 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
Tag Q3_21_rating was removed from gene: RAD21.
Source Expert Review Green was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_rating tag was added to gene: RAD21.
Gene: rad21 has been classified as Amber List (Moderate Evidence).
Publications for gene: RAD21 were set to 31334757
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
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