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| Limb disorders v2.75 | ISCA-37394-Loss | Ivone Leong commented on Region: ISCA-37394-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.75 | ISCA-37394-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.61 | HDAC4 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.60 | ISCA-37394-Loss | Eleanor Williams Classified Region: ISCA-37394-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.60 | ISCA-37394-Loss | 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.60 | ISCA-37394-Loss | Eleanor Williams Region: isca-37394-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v1.59 | ISCA-37394-Loss |
Eleanor Williams Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Limb disorders. Sources: ClinGen Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37394-Loss were set to 2q37 deletion syndrome is a condition that can affect many parts of the body. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. PMID 23188045 brachydactyly-mental retardation syndrome, Albright hereditary osteodystrophy-like syndrome, developmental delay and behavioural abnormalities in combination; 600430 Review for Region: ISCA-37394-Loss was set to GREEN Added comment: Adding this CNV as is associated with brachydactyly. The CNV is also on the skeletal dsyplasia panel Sources: ClinGen |
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