Activity
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13 actions
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| Fetal anomalies v6.120 | ARL6IP1 |
Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ARL6IP1. Tag Q3_25_promote_green was removed from gene: ARL6IP1. |
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| Fetal anomalies v6.120 | ARL6IP1 | Achchuthan Shanmugasundram reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.119 | ARL6IP1 |
Arina Puzriakova Source Expert Review Green was added to ARL6IP1. Source NHS GMS was added to ARL6IP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v6.34 | ARL6IP1 |
Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: ARL6IP1. Tag Q3_25_promote_green tag was added to gene: ARL6IP1. |
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| Fetal anomalies v6.29 | ARL6IP1 | Arina Puzriakova reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | ARL6IP1 | Alice Gardham commented on gene: ARL6IP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | ARL6IP1 | Alice Gardham reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39954331; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | ARL6IP1 |
Arina Puzriakova gene: ARL6IP1 was added gene: ARL6IP1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to 39954331 Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, OMIM:615685 |
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| Fetal anomalies v0.134 | ARL6 | Rebecca Foulger edited their review of gene: ARL6: 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: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | ARL6 | Rebecca Foulger commented on gene: ARL6: DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 3 and Confirmed for RETINITIS PIGMENTOSA TYPE 55. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | ARL6 | Rebecca Foulger reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARL6 | Rebecca Foulger Added phenotypes RETINITIS PIGMENTOSA TYPE 55 for gene: ARL6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | ARL6 |
Rebecca Foulger gene: ARL6 was added gene: ARL6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARL6 were set to BARDET-BIEDL SYNDROME TYPE 3 |
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