Common deletion and duplication syndromes
Region: ISCA-37467-GainChromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS)
GRCh38 Position: 156791102-156791874
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The ZPA regulatory sequence (ZRS) of SHH is located within intron 5 of LMBR1.
Multiple reports of isolated and syndromic limb anomalies in association with duplications of this region.
Sources: Expert listCreated: 7 Dec 2020, 11:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies
Publications
Details
- ISCA ID
- ISCA-37467-Gain
- ISCA Region Name
- Chromosome 7q36.3 duplication syndrome (SHH cis-regulatory duplication, ZRS)
- Chromosome
- 7
- GRCh38 Coordinates
- 156791102-156791874
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 80%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Syndactyly, type IV, MIM# 186200
- limb anomalies
- congenital heart disease
- congenital anomalies
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37467-gain has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37467-gain 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-37467-Gain was added Region: ISCA-37467-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37467-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37467-Gain were set to 19847792; 33218365; 32184803; 28035386; 25944787 Phenotypes for Region: ISCA-37467-Gain were set to Syndactyly, type IV, MIM# 186200; limb anomalies; congenital heart disease; congenital anomalies Review for Region: ISCA-37467-Gain was set to GREEN