Deafness and congenital structural abnormalities

Region: ISCA-37501-Loss

17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss

Green List (high evidence)

Chromosome: 17
GRCh38 Position: 60035641-62198448
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

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Sources: Expert list
Created: 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

Details

ISCA ID
ISCA-37501-Loss
ISCA Region Name
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
Chromosome
17
GRCh38 Coordinates
60035641-62198448
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 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
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

28 Jan 2019, Gel status: 3

Changed Triplosensitivity Score, Status Update

Louise Daugherty (Genomics England Curator)

Triplosensitivity Score for ISCA-37501-Loss was changed from 2 to None. Rating Changed from Green List (high evidence) to Green List (high evidence)

24 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Region: isca-37501-loss has been classified as Green List (High Evidence).

24 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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