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| Severe microcephaly v2.287 | SMG8 | Eleanor Williams Tag for-review was removed from gene: SMG8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.282 | SMG8 | Sarah Leigh commented on gene: SMG8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.281 | SMG8 |
Eleanor Williams Source Expert Review Green was added to SMG8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.56 | SMG8 | Arina Puzriakova Classified gene: SMG8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.56 | SMG8 |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber but can be promoted to Green at the next GMS panel update (added 'for-review' tag). At least 5 unrelated families with microcephaly and different homozygous variants in the SMG8 gene. OFC recorded for only 3 families, but each includes at least one microcephalic individual with severity relevant to this panel (more than -3 SD) |
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| Severe microcephaly v2.56 | SMG8 | Arina Puzriakova Gene: smg8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.55 | SMG8 |
Arina Puzriakova gene: SMG8 was added gene: SMG8 was added to Severe microcephaly. Sources: Literature for-review tags were added to gene: SMG8. Mode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG8 were set to 31130284; 33242396 Phenotypes for gene: SMG8 were set to Intellectual disability; Microcephaly; Short stature; Facial dysmorphism Review for gene: SMG8 was set to GREEN Added comment: Currently not associated with any phenotype in OMIM or G2P. ----- - PMID: 31130284 (2019) - Two individuals with distinct homozygous variants in this gene identified as part of a large candidate gene discovery study. Phenotype in one patient included microcephaly, ID, cataract, and neck hyperpigmentation; while the other presented short stature, microcephaly, fine motor delay, ventricular septal defect, failure to thrive, and facial dysmorphism. - PMID: 33242396 (2020) - 9 affected individuals from 4 consanguineous families with different biallelic variants in the SMG8 gene. Clinical features include GDD/ID (8/8), dysmorphic features (9/9) microcephaly (6/9), short stature (4/9), brain imaging anomalies (4/5), congenital heart disease (3/9) and cataract (3/8). Some supportive functional data also provided. Microcephaly was recorded in 3/4 families, ranging in severity from -2.5 SD to -4.1 SD. Sources: Literature |
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