Structural eye disease
Region: ISCA-37396-Loss15q24 recurrent region (A-D) (includes SIN3A) Loss
GRCh38 Position: 72671374-75680568
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
2 reviews
Ivone Leong (Genomics England Curator)
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 12:25 p.m. | Last Modified: 16 Mar 2022, 12:25 p.m.
Panel Version: 1.117
Louise Daugherty (Genomics England Curator)
Sources: Expert listCreated: 24 Jan 2019, 4:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
Publications
Details
- ISCA ID
- ISCA-37396-Loss
- ISCA Region Name
- 15q24 recurrent region (A-D) (includes SIN3A) Loss
- Chromosome
- 15
- GRCh38 Coordinates
- 72671374-75680568
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome 15q24 deletion syndrome, 613406
- PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology
- developmental delay, severe speech problems
- PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features
- PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Changed Triplosensitivity Score, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)Triplosensitivity Score for ISCA-37396-Loss was changed from None to . Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Changed Triplosensitivity Score, Status Update
Louise Daugherty (Genomics England Curator)Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Region: isca-37396-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Structural eye disease. Sources: Expert list Mode of inheritance for Region: ISCA-37396-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37396-Loss were set to 22180641; 19557438; 19233321 Phenotypes for Region: ISCA-37396-Loss were set to Chromosome 15q24 deletion syndrome, 613406; PMID: 22180641 intellectual disability, growth retardation, unusual facial morphology; developmental delay, severe speech problems; PMID:19557438 Developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, characteristic facial features; PMID:614294 Developmental delay, loose connective tissue, digital and genital anomalies, distinct facial gestalt, congenital diaphragmatic hernia Review for Region: ISCA-37396-Loss was set to GREEN