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| Severe microcephaly v4.33 | WLS | Sarah Leigh Tag Q2_23_promote_green was removed from gene: WLS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.33 | WLS | Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.32 | WLS |
Sarah Leigh Source Expert Review Green was added to WLS. Source NHS GMS was added to WLS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v4.9 | WLS | Arina Puzriakova changed review comment from: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Some features such as microcephaly and digit malformations may plausibly be detected prenatally and therefore suggesting this gene is rated Green at the next GMS panel update.; to: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Progressive microcephaly (head circumference, 2 to 5.9 SD below the mean) was seen in all affected patients for whom data were available. Therefore suggesting this gene is rated Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.9 | WLS | Arina Puzriakova Entity copied from Fetal anomalies v3.77 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.9 | WLS |
Arina Puzriakova gene: WLS was added gene: WLS was added to Severe microcephaly. Sources: Literature,Expert Review Amber Q2_23_promote_green tags were added to gene: WLS. Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 34587386 Phenotypes for gene: WLS were set to Zaki syndrome, OMIM:619648 |
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