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Bilateral congenital or childhood onset cataracts v2.110 | COL11A1 | Arina Puzriakova commented on gene: COL11A1: The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.102 | COL11A1 | Arina Puzriakova commented on gene: COL11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.101 | COL11A1 | Arina Puzriakova Mode of inheritance for gene COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Bilateral congenital or childhood onset cataracts v2.86 | COL11A1 | Arina Puzriakova Phenotypes for gene: COL11A1 were changed from Marshall Syndrome; Stickler syndrome to Marshall Syndrome, OMIM:154780; Stickler syndrome, type II, OMIM:604841 |