Common deletion and duplication syndromes
Region: ISCA-37434-LossChromosome 1p36 deletion syndrome
GRCh38 Position: 898703-6229913
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
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
The majority of deletions occur on the maternal chromosome.
Features include: Microbrachycephaly (65%), epicanthus (50%), large, late-closing anterior fontanel (77%), and posteriorly rotated, low-set, abnormal ears (40%), skeletal anomalies (41%), abnormal genitalia (25%), renal abnormalities (22%), hypotonia (95%), seizures (44%), sensorineural deafness (28%)
Sources: Expert listCreated: 6 Dec 2020, 9:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 1p36 deletion syndrome MIM#607872
Publications
Details
- ISCA ID
- ISCA-37434-Loss
- ISCA Region Name
- Chromosome 1p36 deletion syndrome
- Chromosome
- 1
- GRCh38 Coordinates
- 898703-6229913
- 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
- Expert list
- Phenotypes
-
- Chromosome 1p36 deletion syndrome MIM#607872
- intellectual disability
- hypotonia
- congenital anomalies
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37434-loss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37434-Loss were changed from Chromosome 1p36 deletion syndrome MIM#607872 to Chromosome 1p36 deletion syndrome MIM#607872; intellectual disability; hypotonia; congenital anomalies
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37434-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-37434-Loss was added Region: ISCA-37434-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37434-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37434-Loss were set to PMID: 12974736; 18245432 Phenotypes for Region: ISCA-37434-Loss were set to Chromosome 1p36 deletion syndrome MIM#607872 Review for Region: ISCA-37434-Loss was set to GREEN