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| Mitochondrial disorders v3.10 | SLC39A8 | Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in 3 unrelated cases; to: Associated with Congenital disorder of glycosylation, type IIn, OMIM:616721 and as definitive gene in Gen2Phen for Intellectual Disability with Cerebellar Atrophy. However, as stated by Zornitza Stark (Australian Genomics) there is insufficient evidence for mitochondrial phenotype associated with this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.10 | SLC39A8 | Sarah Leigh Publications for gene: SLC39A8 were set to 29903433 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.9 | SLC39A8 | Sarah Leigh Phenotypes for gene: SLC39A8 were changed from Congenital disorder of glycosylation, type IIn 616721 to Congenital disorder of glycosylation, type IIn, OMIM:616721; SLC39A8-CDG, MONDO:0014746 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v3.8 | SLC39A8 | Sarah Leigh Mode of inheritance for gene: SLC39A8 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.5 | SLC39A8 | Zornitza Stark reviewed gene: SLC39A8: Rating: AMBER; Mode of pathogenicity: None; Publications: 29453449, 27995398; Phenotypes: Congenital disorder of glycosylation, type IIn, MIM#616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.452 | SLC39A8 | Sarah Leigh Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn 616721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.452 | SLC39A8 | Sarah Leigh Publications for gene: SLC39A8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | SLC39A8 | Sarah Leigh reviewed gene: SLC39A8: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital disorder of glycosylation, type IIn 616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | SLC39A8 |
Sarah Leigh gene: SLC39A8 was added gene: SLC39A8 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: SLC39A8 was set to |
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