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  3. ISCA-37394-Loss
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GMS Musculoskeletal specialist test group Skeletal dysplasia

Region: ISCA-37394-Loss

2q37.3 terminal region (includes HDAC4) Loss

Green List (high evidence)
Chromosome: 2
GRCh38 Position: 239032997-241988449
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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 list
Created: 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

Created: 6 Mar 2019, 1:59 p.m.

Panel version: 0.3

Details

ISCA ID
ISCA-37394-Loss
ISCA Region Name
2q37.3 terminal region (includes HDAC4) Loss
Chromosome
2
GRCh38 Coordinates
239032997-241988449
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
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
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

18 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Region: isca-37394-loss has been classified as Green List (High Evidence).

7 Mar 2019, Gel status: 1

Changed Triplosensitivity Score, Added New Source

Eleanor Williams (Genomics England Curator)

Triplosensitivity Score for ISCA-37394-Loss was changed from None to . Source NHS GMS was added to Region: ISCA-37394-Loss.

6 Mar 2019, Gel status: 1

Changed Variant Types

Eleanor Williams (Genomics England Curator)

Variant type for ISCA-37394-Loss was changed from small to cnv_loss.

6 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

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