Vici Syndrome and other autophagy disorders
Gene: EPG5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Two reviewers agree this gene should be green, and it is a confirmed DD gene for IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM.Created: 20 Apr 2016, 8:25 a.m.
Mode of inheritance from UKGTN source.Created: 14 Jul 2015, 1:06 p.m.
31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600; 23674064; 28624465
Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600; 23674064
Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600; 23674064
Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586; 26395118; 23838600
Publications for EPG5 were set to PMID: 23222957; 25331754; 26917586
Phenotypes for EPG5 were set to Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
This gene has been classified as Green List (High Evidence).
Publications for EPG5 were set to PMID: 23222957; 25331754
This gene has been classified as Green List (High Evidence).
EPG5 was added to Vici Syndrome and other autophagy disorderspanel. Sources: UKGTN
EPG5 was added to Vici Syndrome and other autophagy disorderspanel. Sources: Radboud University Medical Center, Nijmegen