Common deletion and duplication syndromes
Region: ISCA-37425-GainChromosome 5q35 duplication syndrome
GRCh38 Position: 176301975-177586960
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)
Reciprocal duplication including NSD1, supporting gene dosage effect of NSD1 on growth regulation and neurological function.
Sources: Expert listCreated: 3 Dec 2020, 7:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures
Publications
Details
- ISCA ID
- ISCA-37425-Gain
- ISCA Region Name
- Chromosome 5q35 duplication syndrome
- Chromosome
- 5
- GRCh38 Coordinates
- 176301975-177586960
- 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
-
- Chromosome 5q35 duplication syndrome
- microcephaly
- failure to thrive
- seizures
- Tags
- 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-37425-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-37425-gain has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37425-Gain was added Region: ISCA-37425-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37425-Gain. Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37425-Gain were set to 24819041 Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures Review for Region: ISCA-37425-Gain was set to GREEN