17q12 Knowledge Basedeletion syndrome · static snapshot
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17q12 deletion syndrome, kept up to date

A crawler collects everything it can find about this condition, a warehouse stores every original capture, and an analysis engine re-reads the corpus to tell you what is new what changed. This page is the summary of the last pass.

582
Documents stored
3.8M words analysed
1.3k
Insights in last 45 days
1.3k total
582
Sources changed (30 d)
1.2k captures kept
58
Entities tracked
9.3k evidence sentences

What changed in the last 24 hours

generated 2026-11-14 16:44
+21
new documents
13
sources updated
+807
new insights
50
insights strengthened

Strongest current insights

Phenotype expansion kidney and urinary tract conf 97%

New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…

A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”

today
Phenotype expansion kidney and urinary tract conf 97%

New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…

A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”

today
Phenotype expansion Signs & symptoms conf 97%

New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…

A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic...

today
Phenotype expansion kidney and urinary tract conf 97%

New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…

A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and...

today

Newest insights

All insights
Phenotype expansion kidney and urinary tract conf 97%

New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…

A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”

today
Phenotype expansion kidney and urinary tract conf 97%

New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…

A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”

today
Phenotype expansion Signs & symptoms conf 97%

New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…

A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic...

today
Phenotype expansion kidney and urinary tract conf 97%

New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…

A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and...

today

About this snapshot

Phase
idle
Last crawl
2026-11-14 16:47
Last analysis
2026-11-14 16:44
Last synthesis
2026-11-14 16:44
Warehouse
78.8 MB raw (gzip) · 1161 versions

This is a static snapshot of a research platform that normally re-crawls and re-analyses the corpus automatically. The figures above show when that last happened.

Most-mentioned genes

detail
HNF1B 326
LHX1 66
HNF1A 56
HNF4A 48
GCK 41
TCF2 32
ACACA 29
PAX2 27

Body systems in the corpus

kidney and urinary tract 371
diabetes and metabolism 314
learning, speech and behaviour 201
liver and gallbladder 172
genital and Müllerian development 169
tumour risk 133
the heart 111
growth, gut and nutrition 91

Corpus growth

documents stored per day, and total insights

New documents per day

2026-11-12: 92 2026-11-13: 483 2026-11-14: 7
2026-11-12 → 2026-11-14 · peak 483

Publications per year (by source date)

1992: 1 1993: 2 1994: 4 1995: 3 1996: 1 1997: 1 1998: 3 1999: 2 2000: 3 2001: 2 2002: 5 2003: 3 2004: 1 2005: 2 2006: 3 2007: 2 2008: 8 2009: 4 2010: 12 2011: 9 2012: 9 2013: 10 2014: 8 2015: 13 2016: 14 2017: 10 2018: 14 2019: 16 2020: 12 2021: 19 2022: 31 2023: 26 2024: 63 2025: 97 2026: 142
19922009 2026
peak: 2026 with 142

Recent activity

full timeline
insight added
2026-11-14 16:44
New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic...
insight added
2026-11-14 16:44
New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our...
insight added
2026-11-14 16:44
New observation reported: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our...
insight added
2026-11-14 16:44
New observation reported: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras...
insight added
2026-11-14 16:44
New observation reported: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with...
insight added
2026-11-14 16:44
New observation reported: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted...
insight added
2026-11-14 16:44
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;...
insight added
2026-11-14 16:44
New observation reported: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
insight added
2026-11-14 16:44
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,...
insight added
2026-11-14 16:44
New observation reported: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay,...
insight added
2026-11-14 16:44
New observation reported: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive...
insight added
2026-11-14 16:44
New observation reported: However, there were many highly significant genes showing novel isoforms in our data that were not previously …
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not...
insight added
2026-11-14 16:44
New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions;...
insight added
2026-11-14 16:44
New observation reported: Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring…
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family...

Source health

all sources
SourceTierDocsLast change
Curated web + discovery crawl curated 5 today
ClinicalTrials.gov institutional 5 yesterday
Health news feeds news 0 not crawled yet
Crossref peer_reviewed 0 no new content · crawled today
Europe PMC peer_reviewed 0 no new content · crawled today
Journal RSS peer_reviewed 0 no new content · crawled today
Local uploads (data/inbox) peer_reviewed 1 yesterday
OpenAlex peer_reviewed 53 yesterday
PubMed (NCBI E-utilities) peer_reviewed 342 today
PubMed Central full text peer_reviewed 158 today
bioRxiv / medRxiv preprint 0 not crawled yet
Wikipedia reference 4 today