Details of Disease

General Information of Disease (ID: DISKX7OJ)

• Disease Name: PAX6-related ocular dysgenesis
• Definition: Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.|Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found that the diverse phenotypes associated with variants in PAX6 have all been associated with an autosomal dominant mode of inheritance. The high proportion of null and apparent loss-of-function PAX6 variants across all of these phenotypes indicates a common haploinsufficiency mechanism. The phenotypic variability among them is consistent with a single spectrum of disease. The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself, including this class, (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus (MONDO:0014937 aniridia 2) or TRIM44 locus (MONDO:0014938 aniridia 3).
• Disease Hierarchy:
  DISLMRN4: SMARCB1-deficient kidney medullary carcinoma
  DISD715V: Hereditary neurological disease
  DISTN8X8: Hereditary renal cell carcinoma
  DISTQ9IH: Eye carcinoma
  DISKX7OJ: PAX6-related ocular dysgenesis

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAX6	OTOC9876	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.