Deafness and congenital structural abnormalities
Region: ISCA-37396-Loss15q24 recurrent region (A-D) (includes SIN3A) Loss
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: 1.19
Sources: Expert listCreated: 24 Jan 2019, 4:01 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
Triplosensitivity Score for ISCA-37396-Loss was changed from None to . Required Overlap Percentage for ISCA-37396-Loss was changed from 80 to 60.
Triplosensitivity Score for ISCA-37396-Loss was changed from 1 to None. Rating Changed from Green List (high evidence) to Green List (high evidence)
Region: isca-37396-loss has been classified as Green List (High Evidence).
Region: ISCA-37396-Loss was added Region: ISCA-37396-Loss was added to Deafness and congenital structural abnormalities. 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