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| Mendeliome v2.0 | SYNPO2 | Gene migrated from ENSG00000172403 to ENSG00000172403 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5019 | SYNPO2 | Zornitza Stark Marked gene: SYNPO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5019 | SYNPO2 | Zornitza Stark Gene: synpo2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5019 | SYNPO2 | Sangavi Sivagnanasundram Classified gene: SYNPO2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5019 | SYNPO2 | Sangavi Sivagnanasundram Gene: synpo2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.5018 | SYNPO2 |
Sangavi Sivagnanasundram gene: SYNPO2 was added gene: SYNPO2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SYNPO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNPO2 were set to 36847718; 33615072 Phenotypes for gene: SYNPO2 were set to Nephrotic Syndrome MONDO:0005377 Review for gene: SYNPO2 was set to RED Added comment: PMID 33615072 reports two consanguineous families with homozygous loss-of-function SYNPO2 variants (p.Lys1124* and p.Ala1134Thr) presenting with childhood-onset steroid-resistant nephrotic syndrome. p.Ala1134Thr is present in gnomADv4.1 with a FAF of 1.4% however p.Lys1124* is absent from gnomADv4.1 There are no pathogenic variants reported in ClinVar in this gene and there is no Morbid terminology present in OMIM. Given only one of the reported families present with a rare variant, this GDA is to remain RED till further evidence is provided. Sources: Literature |
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