ELP4

elongator acetyltransferase complex subunit 4
OMIM: 606985, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ELP4 in Eye Anterior Segment Abnormalities


Level 2: Ophthalmological disorders
Version 1.20

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246

Green ELP4 in Cataract


Level 2: Ophthalmological disorders
Version 0.630

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246

Green ELP4 in Mendeliome


Version 1.4516

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246