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| Rare multisystem ciliopathy disorders v1.158 | XPNPEP3 | Sarah Leigh Classified gene: XPNPEP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.158 | XPNPEP3 | Sarah Leigh Gene: xpnpep3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.157 | XPNPEP3 |
Sarah Leigh edited their review of gene: XPNPEP3: Added comment: Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least three variants were reported in three unrelated cases (PMID: 32660933; 20179356). Two of the variants were terminating (RCV000000069, RCV001554332) and the third was a missense variant (RCV000000068), that seems to activate a cryptic splice site; RT-PCR of lymphoblastoid cells showed that this resulted in the inclusion of intronic bases and a frameshift. Cilia-related function was examined by the suppression of zebrafish xpnpep3, resulting in phenotypes reminiscent of ciliopathy morphants, this effect was rescued by human XPNPEP3 that was devoid of a mitochondrial localization signal (PMID: 20179356). Feedback from Helen Brittain (GEL Clinical Fellow): this gene is suitable for this panel.; Changed rating: GREEN |
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| Rare multisystem ciliopathy disorders v1.157 | XPNPEP3 | Sarah Leigh Classified gene: XPNPEP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.157 | XPNPEP3 | Sarah Leigh Gene: xpnpep3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.156 | XPNPEP3 | Sarah Leigh Classified gene: XPNPEP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.156 | XPNPEP3 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review, however, reviewers on the Primary ciliary disorders (https://panelapp.genomicsengland.co.uk/panels/178/gene/XPNPEP3/#!review) question the relevance of the phenotype associated with variants in XPNPEP3. Helen Brittain (GEL Clinical Fellow) has been consulted regarding this issue. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.156 | XPNPEP3 | Sarah Leigh Gene: xpnpep3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.155 | XPNPEP3 | Sarah Leigh Publications for gene: XPNPEP3 were set to 20179356 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.154 | XPNPEP3 | Sarah Leigh Phenotypes for gene: XPNPEP3 were changed from Nephronophthisis-like nephropathy 1, 613159; Ciliopathies; Nephronophthisis to Nephronophthisis-like nephropathy 1 OMIM:613159; nephronophthisis-like nephropathy 1 MONDO:0013163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | XPNPEP3 | Alice Gardham marked XPNPEP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | XPNPEP3 | Alice Gardham classified XPNPEP3 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders | XPNPEP3 | Alice Gardham reviewed XPNPEP3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||