Activity
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3 actions
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| 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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| Monogenic short stature v0.96 | CRIPT | Arina Puzriakova Entity copied from Growth failure in early childhood v3.78 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v0.96 | CRIPT |
Arina Puzriakova gene: CRIPT was added gene: CRIPT was added to Monogenic short stature. Sources: Expert Review Red Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to PMC3912419 Phenotypes for gene: CRIPT were set to frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly |
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