Eleanor Williams Added comment: Comment on list classification: Changing rating from green to amber, as there are only 2 cases where patients with variants in this gene have a reported brachydactyly phenotype. But the CNV covering this region has been added to the panel - ISCA-37394-Loss (2q37.3 terminal region (includes HDAC4) Loss) as there is more evidence that loss of the region results in a relevant phenotype.
Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Sufficient evidence that CNVs covering this region (HDAC4 in particular) result in a brachydactyly phenotype (PMID: 25329715, PMID: 24715439, PMID: 25402011)