GMS Musculoskeletal specialist test group Skeletal dysplasia
Region: ISCA-37394-Loss2q37.3 terminal region (includes HDAC4) Loss
Comment on list classification: Tracy Lester rated this green, so changing rating to green for the internal panel.Created: 18 Apr 2019, 3 p.m.
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: green
Sources: Expert listCreated: 6 Mar 2019, 1:59 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
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
Publications
Region: isca-37394-loss has been classified as Green List (High Evidence).
Triplosensitivity Score for ISCA-37394-Loss was changed from None to . Source NHS GMS was added to Region: ISCA-37394-Loss.
Variant type for ISCA-37394-Loss was changed from small to cnv_loss.
Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: Expert list 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 Review for Region: ISCA-37394-Loss was set to GREEN