Research frontier: what is being worked on
Natural-history and genotype-phenotype studies, HNF1B cell and animal models, better breakpoint mapping with long-read sequencing, and registries that recruit families.
Where the field is working
- Natural-history studies. The biggest gap is knowing how often things actually happen in people
found by screening, not by symptoms. Registries and longitudinal cohorts are the main route.
- Genotype-phenotype precision. Using exact breakpoints and gene content (rather than "17q12
deletion" as one bucket) to explain why people differ.
- Models of HNF1B loss. iPSC-derived kidney/pancreas cells, organoids, zebrafish and mouse models
to understand why one deleted copy causes such varied organ effects.
- Long-read sequencing and optical mapping to define breakpoints and complex rearrangements that
microarrays cannot resolve.
- Neuropsychiatric follow-up - especially the psychosis link, which is real but poorly quantified.
- Clinical trials and studies - tracked automatically from ClinicalTrials.gov on this site; there
are few interventional trials, and most current studies are observational.
If you want to help: registry participation and tissue/data donation from families is what moves this field fastest, because the condition is rare and the numbers are small.
Freshest finding: A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal m”
Recurring research themes in the collected corpus
The analysis tags documents with these buckets automatically; the counts on the Analysis page show how much of the corpus is about each:
natural history/ registry / longitudinal cohortsiPSC,organoid,mouse model,zebrafish(functional work on HNF1B/LHX1)long-read,optical mapping,aCGH,microarray(breakpoint and detection methods)RNA-seq,single-cell(expression consequences of haploinsufficiency)biomarkerwork (early markers of renal decline, diabetes prediction)
Open questions the corpus keeps raising
- What proportion of carriers are asymptomatic, and what is the true prevalence?
- Which gene(s) beyond HNF1B drive the neurodevelopmental features?
- What modifies renal outcome within families?
- How large is the absolute risk of psychosis, and is it modifiable?
- Which surveillance interval is actually cost-effective?
How this site helps research
Every insight links to the exact sentence and the archived copy of the source at the time it was collected, so a claim can be checked rather than trusted.
What the corpus says, by the numbers
- Research - mentioned in 170 collected documents (2355 mentions).
Latest evidence in the collected corpus
New observation reported: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the phenotypes of carriers of reciprocal m”
“Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared…”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopme”
“Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult…”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery efforts (see Tip #9).”
“Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery…”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
“One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
“Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
“TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype associations, advancing molecular characterization and NDD genetic diagnoses.”
“We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype associations, advancing molecular characterization and NDD genetic diagnoses.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”
“Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
This entry is version 11. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 70% · last updated 2026-11-14 16:44