Common deletion and duplication syndromes
Region: ISCA-37394-Loss2q37.3 deletion syndrome
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
HDAC4 (histone deacetylase 4)
EnsemblGeneIds (GRCh38): ENSG00000068024
EnsemblGeneIds (GRCh37): ENSG00000068024
OMIM: 605314, Gene2Phenotype
HDAC4 is in 0 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established recurrent CNV.
Sources: Expert ReviewCreated: 27 Nov 2020, 9:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability
Publications
Details
- ISCA ID
- ISCA-37394-Loss
- ISCA Region Name
- 2q37.3 deletion syndrome
- 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, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Chromosome 2q37 deletion syndrome, MIM# 600430
- brachydactyly
- intellectual disability
- Tags
- OMIM
- 605314
- Clinvar variants
- Variants in HDAC4
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37394-Loss were changed from Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly; intellectual disability
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37394-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37394-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37394-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37394-Loss was added Region: ISCA-37394-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review Mode of inheritance for Region: ISCA-37394-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37394-Loss were set to 20691407 Phenotypes for Region: ISCA-37394-Loss were set to Chromosome 2q37 deletion syndrome, MIM# 600430; brachydactyly, intellectual disability Review for Region: ISCA-37394-Loss was set to GREEN