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Mendeliome v1.4368 CRYBA2 Bryony Thompson Marked gene: CRYBA2 as ready
Mendeliome v1.4368 CRYBA2 Bryony Thompson Gene: cryba2 has been classified as Green List (High Evidence).
Mendeliome v1.4368 CRYBA2 Bryony Thompson Classified gene: CRYBA2 as Green List (high evidence)
Mendeliome v1.4368 CRYBA2 Bryony Thompson Gene: cryba2 has been classified as Green List (High Evidence).
Mendeliome v1.4367 CRYBA2 Bryony Thompson gene: CRYBA2 was added
gene: CRYBA2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRYBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CRYBA2 were set to 23508780; 37438446; 21212184; 38909969; 34014271; 28450710
Phenotypes for gene: CRYBA2 were set to cataract MONDO:0005129
Review for gene: CRYBA2 was set to GREEN
Added comment: 5 reported families/cases with missense variants, 3 families segregating variants with incomplete penetrance. Also, a supporting mouse model
Sources: Literature