Activity
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9 actions
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| Fetal anomalies v4.36 | CALCRL | Achchuthan Shanmugasundram commented on gene: CALCRL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CALCRL | Stephanie Allen reviewed gene: CALCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 30115739, 16537897; Phenotypes: Lymphatic Malformation 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | CALCRL |
Achchuthan Shanmugasundram Source Expert Review Amber was added to CALCRL. Source NHS GMS was added to CALCRL. Publications for gene: CALCRL were updated from 30115739; 16537897 to 33082562; 30115739; 16537897 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v1.182 | CALCRL | Arina Puzriakova Phenotypes for gene: CALCRL were changed from Lymphatic malformation 8 (MIM# 618773); hydrops fetalis to Lymphatic malformation 8, OMIM:618773; Lymphatic malformation 8, MONDO:0032907; Hydrops fetalis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.181 | CALCRL | Arina Puzriakova Publications for gene: CALCRL were set to 30115739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.180 | CALCRL | Arina Puzriakova Classified gene: CALCRL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.180 | CALCRL | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with recurrent hydrops fetalis (PMID:30115739), supported by in vitro and animal model data. Rating Red as additional cases required to corroborate this gene-disease association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.180 | CALCRL | Arina Puzriakova Gene: calcrl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.74 | CALCRL |
Zornitza Stark gene: CALCRL was added gene: CALCRL was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CALCRL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CALCRL were set to 30115739 Phenotypes for gene: CALCRL were set to Lymphatic malformation 8 (MIM# 618773); hydrops fetalis Review for gene: CALCRL was set to RED Added comment: Single family reported with several affected pregnancies. Sources: Literature |
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