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| Holoprosencephaly - NOT chromosomal v2.27 | RAD21 | Ivone Leong Tag Q3_21_rating was removed from gene: RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.27 | RAD21 | Sarah Leigh commented on gene: RAD21 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.26 | RAD21 |
Ivone Leong Source Expert Review Green was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Holoprosencephaly - NOT chromosomal v2.23 | RAD21 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.23 | RAD21 | Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.23 | RAD21 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.23 | RAD21 | Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.22 | RAD21 | Arina Puzriakova Added comment: Comment on publications: PMID: 32696056 (2020) - fourth unrelated individual reported presenting holoprosencephaly associated with a heterozygous RAD21 LoF variant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.22 | RAD21 | Arina Puzriakova Publications for gene: RAD21 were set to 31334757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.21 | RAD21 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Holoprosencephaly - NOT chromosomal v2.5 | RAD21 |
Zornitza Stark 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 Added comment: Three individuals reported with variants in this gene and HPE phenotype Sources: Literature |
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