Activity
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11 actions
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| Fetal anomalies v6.126 | GON4L | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.126 | GON4L | Achchuthan Shanmugasundram Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder, MONDO:0100038 to Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.125 | GON4L | Achchuthan Shanmugasundram Tag gene-checked was removed from gene: GON4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.80 | GON4L | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GON4L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.78 | GON4L |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: GON4L. Tag Q1_25_ promote_green was removed from gene: GON4L. |
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| Fetal anomalies v5.78 | GON4L | Achchuthan Shanmugasundram edited their review of gene: GON4L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | GON4L |
Achchuthan Shanmugasundram Source Expert Review Green was added to GON4L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | GON4L |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: GON4L. Tag Q1_25_ promote_green tag was added to gene: GON4L. |
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| Fetal anomalies v5.16 | GON4L | Achchuthan Shanmugasundram commented on gene: GON4L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | GON4L | Anna de Burca reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: ; Publications: 39500882; Phenotypes: Growth impairment, microcephaly, situs inversus, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | GON4L |
Achchuthan Shanmugasundram gene: GON4L was added gene: GON4L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GON4L were set to 39500882 Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder, MONDO:0100038 |
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