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| Mendeliome v2.102 | SMG5 | Zornitza Stark Marked gene: SMG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.102 | SMG5 | Zornitza Stark Gene: smg5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.102 | SMG5 | Zornitza Stark Phenotypes for gene: SMG5 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, SMG5-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.101 | SMG5 |
Zornitza Stark gene: SMG5 was added gene: SMG5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SMG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMG5 were set to 41758221 Phenotypes for gene: SMG5 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: SMG5 was set to RED Added comment: PMID 41758221 reports 1 individual with biallelic loss-of-function splice‑affecting SMG5 variant associated with developmental delay, severe growth retardation, relative macrocephaly and craniofacial dysmorphism. Functional assays demonstrate exon 21 skipping, ~75% reduction of SMG5 protein, increased cell size, Golgi enlargement and proliferation defects. Sources: Literature |
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| Mendeliome v2.0 | ATP5MK | Gene symbol changed from USMG5 to ATP5MK during gene set migration (ENSG00000173915 -> ENSG00000173915) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3923 | USMG5 | Zornitza Stark Publications for gene: USMG5 were set to 29917077; 30240627 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3922 | USMG5 | Zornitza Stark edited their review of gene: USMG5: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3922 | USMG5 | Zornitza Stark reviewed gene: USMG5: Rating: ; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.689 | USMG5 | Bryony Thompson Marked gene: USMG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.689 | USMG5 | Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.689 | USMG5 | Bryony Thompson Classified gene: USMG5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.689 | USMG5 | Bryony Thompson Gene: usmg5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.688 | USMG5 |
Bryony Thompson gene: USMG5 was added gene: USMG5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USMG5 were set to 29917077; 30240627 Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Review for gene: USMG5 was set to AMBER Added comment: A homozygous splice site mutation in 4 patients from 3 unrelated families of Ashkenazi Jewish descent. Experimental analyses demonstrated that the splice variant leads to loss of protein expression and haplotype analysis suggested a founder effect. In situ cryo-ET analysis of the mitochondria of a homozygous affected case showed profound disturbances of mitochondrial crista ultrastructure. Sources: Literature |
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