Activity
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| Monogenic short stature v1.22 | RREB1 | Achchuthan Shanmugasundram edited their review of gene: RREB1: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.22 | RREB1 | Achchuthan Shanmugasundram Classified gene: RREB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.22 | RREB1 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: The eligibility criteria for R453 in the National Genomic Test Directory specifies that the patients should have the height at <-3 SD below mean for the age to be included on this panel. As the reported patients do not meet this criteria, this gene has been rated red with the current evidence. This gene has already been proposed for green rating on R29 Intellectual disability panel and hence will feed into R27 Paediatric disorders. |
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| Monogenic short stature v1.22 | RREB1 | Achchuthan Shanmugasundram Gene: rreb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.21 | RREB1 | Achchuthan Shanmugasundram Phenotypes for gene: RREB1 were changed from Rasopathy; Noonan-like; developmental disorder to RASopathy, MONDO:0021060 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.20 | RREB1 | Achchuthan Shanmugasundram Publications for gene: RREB1 were set to PMID: 40418122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.19 | RREB1 |
Achchuthan Shanmugasundram changed review comment from: PMID:38332451 (2024) reported the first patient with RREB1-associated Noonan-like RASopathy. A pathogenic de novo variant in RREB1 gene was identified by whole-genome sequencing and was confirmed by Sanger sequencing in the proband (c.2677del/ p.Ala893Argfs*20). The patient presented with severe intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms. The height and weight of the patient was <3 centile at 3.25 years of age. PMID:40418122 (2025) reported a cohort of six individuals with a RASopathy phenotype, which include mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay. They were identified with six different truncating RREB1 variants via exome sequencing (five patients with de novo and one patient with paternally inherited variants). Although all reported patients had relative short stature, only one patient had -2SD below mean for the age. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:38332451 (2024) reported the first patient with RREB1-associated Noonan-like RASopathy. A pathogenic de novo variant in RREB1 gene was identified by whole-genome sequencing and was confirmed by Sanger sequencing in the proband (c.2677del/ p.Ala893Argfs*20). The patient presented with severe intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms. The height and weight of the patient was <3 centile at 3.25 years of age. PMID:40418122 (2025) reported a cohort of six individuals with a RASopathy phenotype, which include mild dysmorphisms, congenital heart disease, genitourinary malformations, dental anomalies, and developmental delay. They were identified with six different truncating RREB1 variants via exome sequencing (five patients with de novo and one patient with paternally inherited variants). Only one of the six reported patients had the height of ~-2SD below mean for the age. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. |
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| Monogenic short stature v1.19 | RREB1 | Achchuthan Shanmugasundram reviewed gene: RREB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38332451, 40418122; Phenotypes: RASopathy, MONDO:0021060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.17 | RREB1 |
Karen Stals gene: RREB1 was added gene: RREB1 was added to Monogenic short stature. Sources: Literature Mode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RREB1 were set to PMID: 40418122 Phenotypes for gene: RREB1 were set to Rasopathy; Noonan-like; developmental disorder Penetrance for gene: RREB1 were set to Complete Review for gene: RREB1 was set to GREEN Added comment: 6 additional individuals with truncating variants in RREB1 gene and a Rasopathy phenotype, features including congenital heart disease, developmental delay, short stature, and dysmorphic facial features (PMID: 40418122). RREB1 encodes a transcriptional repressor of Ras-MAPK signalling. Supporting functional evidence and animal models. Sources: Literature |
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