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Fetal anomalies v6.152 B9D1 Arina Puzriakova Added phenotypes Joubert syndrome 27, OMIM:617120 for gene: B9D1
Fetal anomalies v6.150 B9D1 Arina Puzriakova edited their review of gene: B9D1: Changed rating: GREEN
Fetal anomalies v6.149 B9D1 Arina Puzriakova commented on gene: B9D1: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.148 B9D1 Arina Puzriakova commented on gene: B9D1: 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 B9D1 Stephanie Allen reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40933483, 40565534; Phenotypes: Joubert syndrome 27, OMIM:617120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.143 B9D1 Arina Puzriakova Source Expert Review Green was added to B9D1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.36 B9D1 Achchuthan Shanmugasundram commented on gene: B9D1
Fetal anomalies v4.35 B9D1 Natalie Chandler reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34338422, 25920555, 32622957, 21763481, 21493627, 24886560; Phenotypes: Joubert syndrome 27, MONDO:0014927, Joubert syndrome 27, OMIM:617120, Meckel syndrome 9, OMIM:614209, Meckel syndrome 9, MONDO:0013630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.141 B9D1 Arina Puzriakova Publications for gene: B9D1 were set to
Fetal anomalies v1.140 B9D1 Arina Puzriakova Phenotypes for gene: B9D1 were changed from MECKEL SYNDROME 9 to Meckel syndrome 9, OMIM:614209; Meckel syndrome 9, MONDO:0013630; Joubert syndrome 27, OMIM:617120; Joubert syndrome 27, MONDO:0014927
Fetal anomalies v1.139 B9D1 Arina Puzriakova commented on gene: B9D1
Fetal anomalies v1.95 B9D1 Rhiannon Mellis reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32622957, 24886560; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.9 B9D1 Rebecca Foulger reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 B9D1 Rebecca Foulger gene: B9D1 was added
gene: B9D1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B9D1 were set to MECKEL SYNDROME 9