Common deletion and duplication syndromes
Region: ISCA-37493-Loss1q43q44 microdeletion syndrome
GRCh38 Position: 243124428-245154985
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Publications
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability. ZBTB18 deletions or mutations are associated with variable corpus callosum anomalies with an incomplete penetrance
Sources: Expert listCreated: 1 Dec 2020, 5:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
1q43q44 microdeletion syndrome
Publications
- PMID: 28283832
Details
- ISCA ID
- ISCA-37493-Loss
- ISCA Region Name
- 1q43q44 microdeletion syndrome
- Chromosome
- 1
- GRCh38 Coordinates
- 243124428-245154985
- 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 list
- Phenotypes
-
- 1q43q44 microdeletion syndrome
- intellectual disability
- seizures
- microcephaly
- corpus callosum abnormalities
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37493-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37493-loss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37493-Loss were changed from 1q43q44 microdeletion syndrome to 1q43q44 microdeletion syndrome; intellectual disability; seizures; microcephaly; corpus callosum abnormalities
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for Region: ISCA-37493-Loss were set to PMID: 28283832
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37493-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37493-Loss was added Region: ISCA-37493-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37493-Loss were set to PMID: 28283832 Phenotypes for Region: ISCA-37493-Loss were set to 1q43q44 microdeletion syndrome Review for Region: ISCA-37493-Loss was set to GREEN