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| Mitochondrial disease v0.319 | XPNPEP3 | Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.319 | XPNPEP3 | Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.318 | XPNPEP3 | Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.245 | XPNPEP3 | Bryony Thompson Marked gene: XPNPEP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.245 | XPNPEP3 | Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.245 | XPNPEP3 | Bryony Thompson Classified gene: XPNPEP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.245 | XPNPEP3 | Bryony Thompson Added comment: Comment on list classification: No other families reported since the two reported in 2010, and the animal model is a zebrafish rather than mouse, thus set to amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.245 | XPNPEP3 | Bryony Thompson Gene: xpnpep3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.244 | XPNPEP3 |
Bryony Thompson gene: XPNPEP3 was added gene: XPNPEP3 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XPNPEP3 were set to 20179356; 25778941 Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 MIM#613159 Review for gene: XPNPEP3 was set to AMBER Added comment: Two families with two different homozygous variants, and a zebrafish model. The protein localises to the mitochondria of renal cells and is involved in mitochondrial homeostasis. It belongs to a family of X-pro-aminopeptidases, and has a role in ciliary function. Sources: NHS GMS, Literature |
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