Structural eye disease
Gene: RAX
Chassaing et al. 2014 reported four unrelated families, others have been publishedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anophthalmia/Microphthalmia
Publications
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Chassaing et al. 2014 reported four unrelated families, others have been publishedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anophthalmia/Microphthalmia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RAX were changed from Anophthalmia/Microphthalmia to Microphthalmia, isolated 3, OMIM:611038; isolated microphthalmia 3, MONDO:0012604
Publications for gene: RAX were set to 24033328; 14662654; 18783408
Source NHS GMS was added to RAX. Added phenotypes Anophthalmia/Microphthalmia for gene: RAX Publications for gene RAX were changed from to 24033328; 14662654; 18783408
gene: RAX was added gene: RAX was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to Anophthalmia/Microphthalmia