Activity
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| Severe microcephaly v8.34 | SPOUT1 | Eleanor Williams Tag Q1_25_ promote_green was removed from gene: SPOUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.34 | SPOUT1 | Eleanor Williams reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v8.33 | SPOUT1 |
Eleanor Williams Source NHS GMS was added to SPOUT1. Source Expert Review Green was added to SPOUT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v8.12 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v7.23 | SPOUT1 |
Sarah Leigh changed review comment from: 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; to: 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, short stature was seen in 13/15 families where it could be measured and microcephaly was evident in 18/21 cases, with clearly severe microcephaly in 5 cases (PMID: 39962046, supplementary table 1). 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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| Severe microcephaly v7.23 | SPOUT1 | Sarah Leigh Entity copied from Early onset or syndromic epilepsy v7.81 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v7.23 | SPOUT1 |
Sarah Leigh gene: SPOUT1 was added gene: SPOUT1 was added to Severe microcephaly. Sources: Expert Review Amber,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 |
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