Structural eye disease
Gene: ELP4
Bhatia: 1 family. Sannan: 4 families with deletion of ELP4. More families reported with deletions or intronic variants - however, as this gene is located close to PAX6 these variants are likely to affect PAX6 regulation rather than ELP4Created: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ANIRIDIA 2; 617141
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Bhatia: 1 family. Sannan: 4 families with deletion of ELP4. More families reported with deletions or intronic variants - however, as this gene is located close to PAX6 these variants are likely to affect PAX6 regulation rather than ELP4Created: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ANIRIDIA 2, 617141
Publications
Source NHS GMS was added to ELP4. Added phenotypes ANIRIDIA 2, 617141 for gene: ELP4 Publications for gene ELP4 were changed from 24290376 to 24290376; 29217025
gene: ELP4 was added gene: ELP4 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: ELP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ELP4 were set to 24290376 Phenotypes for gene: ELP4 were set to ?Aniridia 2