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Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ROBO1.
Tag Q1_24_MOI was removed from gene: ROBO1.
Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram edited their review of gene: ROBO1: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 ROBO1 Achchuthan Shanmugasundram Mode of inheritance for gene ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.74 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ROBO1.
Fetal anomalies v5.16 ROBO1 Achchuthan Shanmugasundram commented on gene: ROBO1
Fetal anomalies v5.15 ROBO1 Sarah Graham reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35227688, 28286008, 29194579; Phenotypes: Neurooculorenal syndrome, MIM#620305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.14 ROBO1 Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from Neurooculorenal syndrome, OMIM:620305; Tetralogy of Fallot and septal defects to Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v5.13 ROBO1 Achchuthan Shanmugasundram Source NHS GMS was added to ROBO1.
Added phenotypes Neurooculorenal syndrome, OMIM:620305 for gene: ROBO1
Publications for gene: ROBO1 were updated from 28592524; 28485101; 30712880; 29194579; 35227688 to 35227688; 28592524; 28286008; 28485101; 30712880; 29194579
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880; 29194579; 35227688
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.

Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems. However, some cases do present in utero with renal agenesis and structural brain abnormalities (PMID: 29194579; 35227688) indicating that the phenotype is relevant to this panel.
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Mode of inheritance for gene: ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.141 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from tetralogy of Fallot and septal defects to Tetralogy of Fallot and septal defects; Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v3.140 ROBO1 Arina Puzriakova Tag Q1_24_MOI tag was added to gene: ROBO1.
Fetal anomalies v3.111 ROBO1 Arina Puzriakova Tag gene-checked was removed from gene: ROBO1.
Fetal anomalies v1.860 ROBO1 Eleanor Williams Tag gene-checked tag was added to gene: ROBO1.
Fetal anomalies v0.318 ROBO1 Rebecca Foulger edited their review of gene: ROBO1: Changed rating: GREEN
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Classified gene: ROBO1 as Green List (high evidence)
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on 3 probands reported in PMID:28592524 with ROBO loss of function variants and ventral septal heart defects.
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Gene: robo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.207 ROBO1 Rebecca Foulger commented on gene: ROBO1: Evidence for inclusion on the PAGE Additional gene list comes from a single study in Kruszka et al. (2017, PMID:28592524) but 3 families of different ethnicities; each proband had a ventricular septal defect, and one proband had tetralogy of Fallot. Plus proband 1 had craniofacial findings, consistent with the mouse model. VSD can be detected prenatally (e.g. see PMID:24456562) so is relevant for the panel.
Fetal anomalies v0.207 ROBO1 Rebecca Foulger commented on gene: ROBO1: ROBO1 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880), ROBO1 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.
Fetal anomalies v0.171 ROBO1 Rebecca Foulger Publications for gene: ROBO1 were set to 28592524; 28485101
Fetal anomalies v0.170 ROBO1 Rebecca Foulger commented on gene: ROBO1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
Fetal anomalies v0.9 ROBO1 Rebecca Foulger reviewed gene: ROBO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 ROBO1 Rebecca Foulger gene: ROBO1 was added
gene: ROBO1 was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber
Mode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ROBO1 were set to 28592524; 28485101
Phenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects