ELP4

elongator acetyltransferase complex subunit 4
OMIM: 606985, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red ELP4 in Sporadic aniridia


Level 2: Ophthalmology
Version 3.6
Latest signed off version: v3.2 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • ?Aniridia 2, OMIM:617141
Red ELP4 in Structural eye disease


Level 2: Ophthalmology
Version 4.37
Latest signed off version: v4.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ANIRIDIA 2, 617141
  • ?Aniridia 2