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TET2 and developmental delay are reported together in 1 article.
Gene
TET2
- HGNC
- HGNC:25941
12articles
12mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
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 | developmental delay | “A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.” | 0.98 | 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 |