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| Pituitary hormone deficiency v3.11 | ROBO1 | Arina Puzriakova Tag watchlist tag was added to gene: ROBO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v3.11 | ROBO1 | Arina Puzriakova Publications for gene: ROBO1 were set to 28402530 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v3.10 | ROBO1 | Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303). OMIM have listed the all of the publications (PMID: 28402530; 31448886; 33270637) already previously considered by the GMS expert group and therefore no new evidence to support promotion from amber to green.; to: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303). OMIM have listed the all of the publications (PMID: 28402530; 31448886; 33270637) already previously considered by the GMS expert group and therefore there is no new evidence to support promotion from amber to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v3.10 | ROBO1 | Arina Puzriakova changed review comment from: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303); to: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303). OMIM have listed the all of the publications (PMID: 28402530; 31448886; 33270637) already previously considered by the GMS expert group and therefore no new evidence to support promotion from amber to green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v3.10 | ROBO1 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is now associated with relevant phenotype in OMIM (Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v3.10 | ROBO1 | Arina Puzriakova Phenotypes for gene: ROBO1 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.106 | ROBO1 |
Catherine Snow Tag Q3_22_rating was removed from gene: ROBO1. Tag Q3_22_MOI was removed from gene: ROBO1. Tag Q3_22_NHS_review was removed from gene: ROBO1. |
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| Pituitary hormone deficiency v2.106 | ROBO1 | Catherine Snow changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsAMBER. The additional comments from GLH's is "Not associated with phenotye in OMIM. Phenotypic heterogeneity associated with this gene (HGMD). Liu & Chen 2020: Mother and son with PSIS, Brauner et al 2020 (PNID:33270637), also reported cases from Bashamboo et al 2017 (PMID:28402530): 4 cases (one case also had variants in NBAS and KIAA0556). Suggest amber rating pending further information."; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains AMBER. The additional comments from GLH's is "Not associated with phenotye in OMIM. Phenotypic heterogeneity associated with this gene (HGMD). Liu & Chen 2020: Mother and son with PSIS, Brauner et al 2020 (PNID:33270637), also reported cases from Bashamboo et al 2017 (PMID:28402530): 4 cases (one case also had variants in NBAS and KIAA0556). Suggest amber rating pending further information." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.106 | ROBO1 | Catherine Snow commented on gene: ROBO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.105 | ROBO1 | Catherine Snow Source NHS GMS was added to ROBO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.102 | ROBO1 |
Eleanor Williams Tag Q3_21_NHS_review was removed from gene: ROBO1. Tag Q3_22_NHS_review tag was added to gene: ROBO1. |
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| Pituitary hormone deficiency v2.70 | ROBO1 |
Sarah Leigh Tag Q3_21_NHS_review tag was added to gene: ROBO1. Tag Q3_22_rating tag was added to gene: ROBO1. Tag Q3_22_MOI tag was added to gene: ROBO1. |
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| Pituitary hormone deficiency v2.70 | ROBO1 | Sarah Leigh edited their review of gene: ROBO1: Added comment: Not associated with a phenotype in OMIM, Gen2Phen or MONDO. PMID: 28402530 reports three ROBO1 variants in three unrelated cases with pituitary stalk interruption syndrome (MONDO:0019828, which is a non-gene specific phenotype). Segregation is reported for two of these variants: c.2928_2929delG, p.Ala977Glnfs*40 is found in affected dizygotic twins and c.719G>C, p.Cys240Ser is found an affected child and her affected paternal aunt.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.70 | ROBO1 | Sarah Leigh Added comment: Comment on phenotypes: In the context of the Pituitary hormone deficiency panel, the Mondo term: pituitary stalk interruption syndrome (MONDO:0019828) could be applied, however, this Mondo term is a general description and is not specific to a conidition associated with ROBO1 variants. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.70 | ROBO1 | Sarah Leigh Phenotypes for gene: ROBO1 were changed from to pituitary stalk interruption syndrome, MONDO:0019828 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.69 | ROBO1 | Sarah Leigh Publications for gene: ROBO1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.68 | ROBO1 | Sarah Leigh Mode of inheritance for gene: ROBO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.67 | ROBO1 | Sarah Leigh Classified gene: ROBO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.67 | ROBO1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.67 | ROBO1 | Sarah Leigh Gene: robo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.15 | ROBO1 | Eleanor Williams reviewed gene: ROBO1: Rating: ; Mode of pathogenicity: ; Publications: 28402530; Phenotypes: PSIS, VARIABLE EYE ABNORMALITIES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pituitary hormone deficiency v2.14 | ROBO1 |
Eleanor Williams gene: ROBO1 was added gene: ROBO1 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: ROBO1 was set to |
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