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Limb disorders

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: 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)
Created: 3 Oct 2019, 9:58 a.m. | Last Modified: 3 Oct 2019, 9:58 a.m.
Panel Version: 1.60
Adding this CNV as is associated with brachydactyly. The CNV is also on the skeletal dsyplasia panel
Sources: ClinGen
Created: 3 Oct 2019, 9:50 a.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

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
  • ClinGen
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

History Filter Activity

3 Oct 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).

3 Oct 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

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