Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Cataract 34, multiple types, OMIM:612968, cataract 34 multiple types, MONDO:0013067, Peter's anomaly, microphthalmia. |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes CONGENITAL PRIMARY APHAKIA 610256, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256, Cataract 34, multiple types, OMIM:612968, {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Anterior segment mesenchymal dysgenesis, OMIM:107250, Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256 |