Activity
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15 actions
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| Fetal anomalies v6.152 | ELFN1 | Arina Puzriakova Added phenotypes Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344 for gene: ELFN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.148 | ELFN1 | Arina Puzriakova commented on gene: ELFN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.147 | ELFN1 | Beth Young reviewed gene: ELFN1: Rating: RED; Mode of pathogenicity: ; Publications: 40576023, 34509675, 34452636; Phenotypes: Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.146 | ELFN1 |
Arina Puzriakova gene: ELFN1 was added gene: ELFN1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Fetal anomalies v5.78 | FN1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FN1. Tag Q1_25_ promote_green was removed from gene: FN1. |
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| Fetal anomalies v5.78 | FN1 | Achchuthan Shanmugasundram edited their review of gene: FN1: 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: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | FN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to FN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | FN1 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FN1. Tag Q1_25_ promote_green tag was added to gene: FN1. |
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| Fetal anomalies v5.33 | FN1 | Achchuthan Shanmugasundram Phenotypes for gene: FN1 were changed from Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255; Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | FN1 | Achchuthan Shanmugasundram commented on gene: FN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | FN1 | Anna de Burca reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32200603; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type, MIM#184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | FN1 |
Achchuthan Shanmugasundram Source NHS GMS was added to FN1. Added phenotypes Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255 for gene: FN1 Publications for gene: FN1 were updated from to 32200603 |
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| Fetal anomalies v0.9 | FN1 | Rebecca Foulger commented on gene: FN1: DDG2P rating in original PAGE list: Probable for Spondylometaphyseal Dysplasia with Corner Fractures | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | FN1 | Rebecca Foulger reviewed gene: FN1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | FN1 |
Rebecca Foulger gene: FN1 was added gene: FN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FN1 were set to Spondylometaphyseal Dysplasia with Corner Fractures |
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