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TET2 and neurodevelopmental disorder are reported together in 1 article.
Gene
TET2
- HGNC
- HGNC:25941
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Neurodevelopmental disorder
- HPO
- HP:0012759
450articles
450mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
PMID 35229282 | DOI 10.1111/cge.14126 · Clinical genetics · 2022 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TET2 | “PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression.” | 0.98 | hgnc_dict_v1 |
| phenotype | neurodevelopmental disorder | “The consistent phenotype, the loss-of-function predicted from the frame-shift, the co-segregation of the phenotype in our large pedigree, the vital role of PROSER1 in gene regulation, and the association of related genes with neurodevelopmental disorders argue for the loss of PROSER1 to be the cause for a novel recognizable syndrome.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PROSER1 | “A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.” | 0.98 | hgnc_dict_v1 |
| gene | KMT2C | “PROSER1 has recently been found to be part of the histone methyltransferases KMT2C/KMT2D complexes.” | 0.98 | hgnc_dict_v1 |