| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v1.4933 | UBA7 | Bryony Thompson Marked gene: UBA7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4933 | UBA7 | Bryony Thompson Gene: uba7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4933 | UBA7 | Bryony Thompson Classified gene: UBA7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4933 | UBA7 | Bryony Thompson Gene: uba7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4932 | UBA7 |
Bryony Thompson gene: UBA7 was added gene: UBA7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: UBA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBA7 were set to 42023152; 33710394; 28397838 Phenotypes for gene: UBA7 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: UBA7 was set to AMBER Added comment: PMID 33710394 reports a mosaic de novo splice variant in UBA7 causing moderate intellectual disability in a single individual. PMID 42023152 describes three individuals from three unrelated families with biallelic loss‑of‑function UBA7 truncating variants presenting with severe neurodevelopmental disorder, autism, seizures and dysmorphic features; cellular assays show loss of ISGylation but lack rescue experiments. The frameshift includes 1 homozygote in gnomAD and is more common than expected for a rare recessive disease. PMID 28397838 reports a consanguineous Pakistani family with a homozygous nonsense variant and a milder learning disability, but the variant’s high South‑Asian allele frequency challenges pathogenicity. Sources: Literature |
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