Skeletal dysplasia
Region: ISCA-37394-Loss2q37.3 terminal region (includes HDAC4) Loss
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 12:18 p.m. | Last Modified: 16 Mar 2022, 12:18 p.m.
Panel Version: 2.190
This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37394-Loss; Initial rating suggestion: greenCreated: 6 Mar 2019, 1:52 p.m.
Required Overlap Percentage for ISCA-37394-Loss was changed from 80 to 60.
Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045
Source NHS GMS was added to Region: ISCA-37394-Loss.
Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37394-Loss were set to 25402011; 23188045 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