Sporadic aniridia
Gene: ELP4
A variant Identified in one boy, functional suggests that it affects an enhancer sequence 150kb downstream, resulting in defective maintenance of PAX6Created: 20 Mar 2019, 5:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Aniridia 2 617141
Publications
Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141 to ?Aniridia 2, OMIM:617141
Phenotypes for gene: ELP4 were changed from ?Aniridia 2, 617141; ?Aniridia 2 617141 to ?Aniridia 2, 617141
Source Wessex and West Midlands GLH was added to ELP4. Mode of inheritance for gene ELP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes ?Aniridia 2 617141 for gene: ELP4
Ellen McDonagh: Comment on list classification
Gene: elp4 has been classified as Red List (Low Evidence).
Phenotypes for gene: ELP4 were changed from ?Aniridia 2 to ?Aniridia 2, 617141
Source Radboud University Medical Center, Nijmegen was added to ELP4.
Publications for gene: ELP4 were set to
gene: ELP4 was added gene: ELP4 was added to Aniridia. Sources: Other Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ELP4 were set to ?Aniridia 2