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Constitutional genetics

Week of 14 July 2026

19 articles

Geno'X Veille — genox-veille.fr

Key takeaways this week

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19 articles of 19
WGS / Diagnosis
Autosomal recessivePubMed
★ Top pick

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

Recessive Mendelian disorders (cohort enriched for consanguinity)
0
WGS / DiagnosisRecurrent variantPhenotypic expansion
Genet Med 2026· JulRead
WAPL
Autosomal dominantPubMed
★ Top pick

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

WAPL-related neurodevelopmental disorder and 10q22.3q23.2 genomic disorder
0
NeurodevelopmentNew geneFunctional SNV
Am J Hum Genet 2026· JulRead
TAB3
X-linkedPubMed
★ Top pick

Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity.

X-linked hypotrichosis simplex
0
New geneNew mechanism
Am J Hum Genet 2026· JulRead
WGS / Diagnosis
PubMed
★ Top pick

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

Rare diseases (parental postzygotic mutations)
0
WGS / Diagnosis
Am J Hum Genet 2026· JulRead
PAH
Autosomal recessivePubMed
★ Top pick

Genotype-Phenotype Relationships in Phenylalanine Hydroxylase Deficiency: Functional Annotation-Enhanced Analysis of 23,427 Individuals.

Phenylalanine hydroxylase deficiency (phenylketonuria)
0
Genet Med 2026· JulRead
TCF7L2
Autosomal dominantPubMed
★ Top pick

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

TCF7L2-related neurodevelopmental disorder (TRND)
0
NeurodevelopmentPhenotypic expansion
Genet Med 2026· JulRead
COL1A2
Autosomal dominantPubMed
★ Top pick

Complexity of genomic diagnosis: Lessons learnt from the UK Biobank and Generation study newborn genome sequencing analyses.

Osteogenesis imperfecta
0
Newborn screeningVUS reclassified
Bone 2026· JulRead
Metabolism / Epilepsy
PubMed
★ Top pick

Genetic Testing in Adult Patients With Epilepsy: Genetic Risk Index for Seizure Etiology for Identifying Optimal Candidates.

Adult epilepsy
0
Metabolism / Epilepsy
Neurol Clin Pract 2026· JulRead
JAG1
Autosomal dominantPubMed

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

Alagille syndrome
0
VUS reclassifiedFunctional SNV
Am J Hum Genet 2026· JulRead
B4GALT5
Autosomal recessivePubMed

B4GALT5 deficiency impairs glycosphingolipid biosynthesis: a new Congenital Disorder of Glycosylation?

Possible new congenital disorder of glycosylation
0
New geneFunctional SNV
J Lipid Res 2026· JulRead
SCN5A
Autosomal dominantmedRxiv

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Brugada syndrome
0
CardiologyFunctional SNVDeep intronic variant
medRxiv 2026· JulRead
WGS / Diagnosis
PubMed

Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics.

Genetic diseases (exome/genome diagnostics complemented by RNA sequencing)
0
WGS / Diagnosis
Genet Med 2026· JulRead
AXIN2
Autosomal dominantPubMed

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

AXIN2-related disorders (oligodontia-colorectal cancer syndrome)
0
Phenotypic expansionFunctional SNV
Genet Med 2026· JulRead
PDGFRB
Autosomal dominantPubMed
⭐ À la une

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

Kosaki (KOGS) and Penttinen syndromes
0
Therapeutic implication
Eur J Hum Genet 2026· JulRead
FMR1
X-linkedPubMed

Extended newborn screening using DNA methylation testing for fragile X syndrome in 17,107 infants.

Fragile X syndrome
0
Newborn screeningRepeat expansion
Genet Med 2026· JulRead
MIMS1
Autosomal recessivePubMed

Biallelic Variants in MIMS1 Produce a Form of Spondyloepimetaphyseal Dysplasia With Tracheal Stenosis and Ectodermal Dysplasia (SEMDTSED).

Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (SEMDTSED)
0
New gene
Am J Med Genet A 2026· JulRead
ATP1A4
Autosomal recessivePubMed

Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

Male infertility (oligoasthenoteratozoospermia)
0
New geneFunctional SNV
Clin Genet 2026· JulRead
CACNA1C
Autosomal dominantPubMed

Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.

Timothy syndrome and CACNA1C-related disorder
0
Neurodevelopment
Eur J Hum Genet 2026· JulRead
NR5A1
PubMed

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

46,XY disorder of sex development and Prader-Willi syndrome
0
Hum Mol Genet 2026· JulRead

References and sources

  1. Recessive Mendelian disorders (cohort enriched for consanguinity). Genet Med 2026. PMID 42434812. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42434812/
  2. WAPL — WAPL-related neurodevelopmental disorder and 10q22.3q23.2 genomic disorder. Am J Hum Genet 2026. PMID 42431198. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42431198/
  3. TAB3 — X-linked hypotrichosis simplex. Am J Hum Genet 2026. PMID 42425085. Score 10/10. https://pubmed.ncbi.nlm.nih.gov/42425085/
  4. Rare diseases (parental postzygotic mutations). Am J Hum Genet 2026. PMID 42442367. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42442367/
  5. PAH — Phenylalanine hydroxylase deficiency (phenylketonuria). Genet Med 2026. PMID 42423070. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42423070/
  6. TCF7L2 — TCF7L2-related neurodevelopmental disorder (TRND). Genet Med 2026. PMID 42417140. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42417140/
  7. JAG1 — Alagille syndrome. Am J Hum Genet 2026. PMID 42442366. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42442366/
  8. B4GALT5 — Possible new congenital disorder of glycosylation. J Lipid Res 2026. PMID 42425491. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42425491/
  9. SCN5A — Brugada syndrome. medRxiv 2026. doi:10.64898/2026.07.07.26356386. Score 8/10. https://www.medrxiv.org/content/10.64898/2026.07.07.26356386v1
  10. Genetic diseases (exome/genome diagnostics complemented by RNA sequencing). Genet Med 2026. PMID 42417141. Score 8/10. https://pubmed.ncbi.nlm.nih.gov/42417141/
  11. AXIN2 — AXIN2-related disorders (oligodontia-colorectal cancer syndrome). Genet Med 2026. PMID 42429102. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42429102/
  12. PDGFRB — Kosaki (KOGS) and Penttinen syndromes. Eur J Hum Genet 2026. PMID 42420563. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42420563/
  13. CACNA1C — Timothy syndrome and CACNA1C-related disorder. Eur J Hum Genet 2026. PMID 42426153. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42426153/
  14. COL1A2 — Osteogenesis imperfecta. Bone 2026. PMID 42425254. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42425254/
  15. FMR1 — Fragile X syndrome. Genet Med 2026. PMID 42417138. Score 7/10. https://pubmed.ncbi.nlm.nih.gov/42417138/
  16. MIMS1 — Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia (SEMDTSED). Am J Med Genet A 2026. PMID 42410297. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.70243?af=R
  17. ATP1A4 — Male infertility (oligoasthenoteratozoospermia). Clin Genet 2026. PMID 42381520. Score 7/10. https://onlinelibrary.wiley.com/doi/10.1111/cge.70205?af=R
  18. NR5A1 — 46,XY disorder of sex development and Prader-Willi syndrome. Hum Mol Genet 2026. PMID 42418299. Score 6/10. https://pubmed.ncbi.nlm.nih.gov/42418299/
  19. Adult epilepsy. Neurol Clin Pract 2026. PMID 42413107. Score 9/10. https://pubmed.ncbi.nlm.nih.gov/42413107/
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7 July 2026