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Bilateral congenital or childhood onset cataracts v4.6 EPHA2 Sarah Leigh Tag Q4_23_MOI tag was added to gene: EPHA2.
Bilateral congenital or childhood onset cataracts v4.6 EPHA2 Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 35918037 highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1, therefore, the mode of inheritance for EPHA2 should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review.
Bilateral congenital or childhood onset cataracts v4.6 EPHA2 Sarah Leigh Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bilateral congenital or childhood onset cataracts v4.5 EPHA2 Sarah Leigh Phenotypes for gene: EPHA2 were changed from Age-Related Cortical Cataract; Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600
Bilateral congenital or childhood onset cataracts v4.4 EPHA2 Sarah Leigh Publications for gene: EPHA2 were set to