Activity
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10 actions
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| Monogenic short stature v1.27 | SPOUT1 | Ida Ertmanska reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | SPOUT1 | Ida Ertmanska Tag Q1_25_ promote_green was removed from gene: SPOUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.26 | SPOUT1 | Ida Ertmanska reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.25 | SPOUT1 |
Ida Ertmanska Source Expert Review Green was added to SPOUT1. Source NHS GMS was added to SPOUT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Monogenic short stature v1.23 | SPOUT1 | Arina Puzriakova Phenotypes for gene: SPOUT1 were changed from SPOUT1 Associated Development delay Microcephaly Seizures Short stature to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.5 | SPOUT1 | Sarah Leigh Classified gene: SPOUT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.5 | SPOUT1 | Sarah Leigh Gene: spout1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.4 | SPOUT1 | Sarah Leigh Added comment: Comment on publications: PMID: 39962046 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.4 | SPOUT1 | Sarah Leigh Publications for gene: SPOUT1 were set to 39962046 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic short stature v1.3 | SPOUT1 |
Sarah Leigh gene: SPOUT1 was added gene: SPOUT1 was added to Monogenic short stature. Sources: Literature Q1_25_ promote_green tags were added to gene: SPOUT1. Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPOUT1 were set to 39962046 Phenotypes for gene: SPOUT1 were set to SPOUT1 Associated Development delay Microcephaly Seizures Short stature Review for gene: SPOUT1 was set to GREEN Added comment: PMID: 39962046 reports the association of biallelic SPOUT1 variants with SPOUT1 Associated Development delay Microcephaly Seizures Short stature. In this study, a total of 18 SPOUT1 variants were found in 28 individuals from 21 unrelated families. Intellectual disability was evident in 10/10 families where it could be ascertained, seizures were reported in 16/21 of the families and short stature was seen in 13/15 families where it could be measured. SPOUT1 variant zebra fish models showed reduction in larval head size with concomitant apoptosis and the human SPOUT1 missense variants were pathogenic in complementation assays in zebrafish (PMID: 39962046). Sources: Literature |
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