Pituitary hormone deficiency

Gene: ROBO1

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.

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

Green List (high evidence)

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:28402530

Created: 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

• 28402530