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Intellectual disability v3.1651 GJC2 Arina Puzriakova commented on gene: GJC2: 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.
Intellectual disability v3.1508 GJC2 Arina Puzriakova commented on gene: GJC2
Intellectual disability v3.1507 GJC2 Arina Puzriakova Mode of inheritance for gene GJC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v3.1497 GJC2 Arina Puzriakova Phenotypes for gene: GJC2 were changed from Leukodystrophy, hypomyelinating, 2, 608804Spastic paraplegia 44, autosomal recessive, 613206Lymphedema, hereditary, IC, 613480; LYMPHEDEMA, HEREDITARY, IC to Leukodystrophy, hypomyelinating, 2, OMIM:608804
Intellectual disability GJC2 BRIDGE consortium edited their review of GJC2
Intellectual disability GJC2 BRIDGE consortium edited their review of GJC2
Intellectual disability GJC2 BRIDGE consortium reviewed GJC2