Activity
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12 actions
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| Fetal anomalies v4.192 | GHR |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GHR. Tag Q3_24_NHS_review was removed from gene: GHR. |
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| Fetal anomalies v4.192 | GHR | Achchuthan Shanmugasundram edited their review of gene: GHR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | GHR |
Achchuthan Shanmugasundram Source Expert Review Green was added to GHR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.58 | GHR | Achchuthan Shanmugasundram Phenotypes for gene: GHR were changed from Growth hormone insensitivity, partial, OMIM:604271; PITUITARY DWARFISM II; Laron dwarfism, OMIM:262500 to Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.57 | GHR |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GHR. Tag Q3_24_NHS_review tag was added to gene: GHR. |
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| Fetal anomalies v4.36 | GHR | Achchuthan Shanmugasundram commented on gene: GHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | GHR | Stephanie Allen reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9360502; Phenotypes: Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | GHR |
Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR. Source NHS GMS was added to GHR. Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR Publications for gene: GHR were updated from to 9360502 Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Fetal anomalies v0.135 | GHR |
Rebecca Foulger Source Expert Review Red was added to GHR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Fetal anomalies v0.134 | GHR | Rebecca Foulger edited their review of gene: GHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Baby is normal size at birth and fails to grow afterwards, so not detectable prenatally. Action taken: Demoted GHR gene rating from Green to Red. ; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | GHR | Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | GHR |
Rebecca Foulger gene: GHR was added gene: GHR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to PITUITARY DWARFISM II |
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