Pituitary hormone deficiency
Gene: ROBO1Comment 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.Created: 20 Mar 2024, 11:57 a.m. | Last Modified: 20 Mar 2024, 12:08 p.m.
Panel Version: 3.10
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."Created: 31 Jan 2023, 3:01 p.m. | Last Modified: 31 Jan 2023, 4:46 p.m.
Panel Version: 2.106
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.Created: 20 Sep 2022, 10:54 a.m. | Last Modified: 20 Sep 2022, 10:54 a.m.
Panel Version: 2.70
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.Created: 20 Sep 2022, 10:46 a.m. | Last Modified: 20 Sep 2022, 10:46 a.m.
Panel Version: 2.70
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 20 Sep 2022, 10:44 a.m. | Last Modified: 20 Sep 2022, 10:44 a.m.
Panel Version: 2.67
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Bashamboo A, Bignon-Topalovic J, Moussi N, McElreavey K, Brauner R.J Clin Endocrinol Metab. 2017 Jul 1;102(7):2401-2406. doi: 10.1210/jc.2016-1095.PMID:28402530Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PSIS, VARIABLE EYE ABNORMALITIES
Publications
Tag watchlist tag was added to gene: ROBO1.
Publications for gene: ROBO1 were set to 28402530
Phenotypes for gene: ROBO1 were changed from pituitary stalk interruption syndrome, MONDO:0019828 to Pituitary hormone deficiency, combined or isolated, 8, OMIM:620303
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.
Source NHS GMS was added to ROBO1.
Tag Q3_21_NHS_review was removed from gene: ROBO1. Tag Q3_22_NHS_review tag was added to gene: ROBO1.
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.
Phenotypes for gene: ROBO1 were changed from to pituitary stalk interruption syndrome, MONDO:0019828
Publications for gene: ROBO1 were set to
Mode of inheritance for gene: ROBO1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: robo1 has been classified as Amber List (Moderate Evidence).
gene: ROBO1 was added gene: ROBO1 was added to Pituitary hormone deficiency. Sources: Expert review Mode of inheritance for gene: ROBO1 was set to