Activity
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12 actions
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| Fetal anomalies v6.145 | AMOT |
Arina Puzriakova gene: AMOT was added gene: AMOT was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: AMOT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Fetal anomalies v6.127 | AMOTL1 | Achchuthan Shanmugasundram Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.126 | AMOTL1 | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: AMOTL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.80 | AMOTL1 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AMOTL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | AMOTL1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AMOTL1. Tag Q1_25_ promote_green was removed from gene: AMOTL1. |
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| Fetal anomalies v5.78 | AMOTL1 | Achchuthan Shanmugasundram edited their review of gene: AMOTL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | AMOTL1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | AMOTL1 | Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: AMOTL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.73 | AMOTL1 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: AMOTL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | AMOTL1 | Achchuthan Shanmugasundram commented on gene: AMOTL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | AMOTL1 | Alice Gardham reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36751037; Phenotypes: Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | AMOTL1 |
Achchuthan Shanmugasundram gene: AMOTL1 was added gene: AMOTL1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to 36751037 Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related Mode of pathogenicity for gene: AMOTL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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