Deafness and congenital structural abnormalities
Region: ISCA-37501-Loss17q23.1q23.2 recurrent region (includes TBX2, TBX4) 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, 1:28 p.m. | Last Modified: 16 Mar 2022, 1:28 p.m.
Panel Version: 1.19
Sources: Expert listCreated: 24 Jan 2019, 2:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss
Publications
Triplosensitivity Score for ISCA-37501-Loss was changed from None to . Required Overlap Percentage for ISCA-37501-Loss was changed from 80 to 60.
Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None. Rating Changed from Green List (high evidence) to Green List (high evidence)
Region: isca-37501-loss has been classified as Green List (High Evidence).
Region: ISCA-37501-Loss was added Region: ISCA-37501-Loss was added to Deafness and congenital structural abnormalities. Sources: Expert list Mode of inheritance for Region: ISCA-37501-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37501-Loss were set to 20206336; 22052739 Phenotypes for Region: ISCA-37501-Loss were set to Chromosome 17q23.1-q23.2 deletion syndrome, 613355; PMID:20206336 mild to moderate developmental delay (particularly speech delay), microcephaly, postnatal growth retardation, heart defects, hand, foot and limb abnormalities; PMID: 22052739 Developmental delay, heart defects, microcephaly, postnatal growth retardation, hand, foot and limb abnormalities, sensorineural hearing loss Review for Region: ISCA-37501-Loss was set to GREEN