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Fetal anomalies v6.152 ADAMTS13 Arina Puzriakova Added phenotypes Hereditary thrombotic thrombocytopenic purpura, OMIM:274150 for gene: ADAMTS13
Fetal anomalies v6.152 PURA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158 for gene: PURA
Fetal anomalies v6.148 PURA Arina Puzriakova commented on gene: PURA: This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Fetal anomalies v6.147 PURA Esther Kinning reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787, 40603987; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, OMIM:616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.147 ADAMTS13 Stephanie Allen reviewed gene: ADAMTS13: Rating: RED; Mode of pathogenicity: ; Publications: 40760196; Phenotypes: Hereditary thrombotic thrombocytopenic purpura, OMIM:274150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.144 PURA Arina Puzriakova Source Expert Review Amber was added to PURA.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.29 PURA Arina Puzriakova reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.28 PURA Natalie Canham commented on gene: PURA: 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 PURA Natalie Canham reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.21 PURA Arina Puzriakova Mode of inheritance for gene PURA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties for gene: PURA
Publications for gene: PURA were updated from to 39521787
Fetal anomalies v0.154 PURA Rebecca Foulger Source Expert Review Red was added to PURA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.153 PURA Rebecca Foulger edited their review of gene: PURA: 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: Nothing structural- delayed/hypomyelination only. Action taken: Demoted PURA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.9 PURA Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 PURA Rebecca Foulger gene: PURA was added
gene: PURA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PURA were set to INTELLECTUAL DISABILITY