Structural eye disease
Gene: MAB21L2
DB Rainger et al. 2014: five unrelated families. All variants reported are missense - loss of functionCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 14, 615877
Publications
Mode of pathogenicity
Other - please provide details in the comments
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Rainger et al. 2014: five unrelated families. All variants reported are missense - loss of functionCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Microphthalmia, syndromic 14, 615877
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to MAB21L2. Mode of pathogenicity for gene MAB21L2 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 14, 615877 for gene: MAB21L2
gene: MAB21L2 was added gene: MAB21L2 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAB21L2 were set to 24906020; 25719200 Phenotypes for gene: MAB21L2 were set to Microphthalmia, syndromic 14, 615877