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Monogenic short stature

Region: ISCA-37420-Loss

17q21.3 recurrent region (includes KANSL1) Loss

Red List (low evidence)
Chromosome: 17
GRCh38 Position: 45627800-46087514
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

Arina Puzriakova (Genomics England Curator)

Previously in phenotypes field:

PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443
Created: 7 Feb 2023, 10:15 a.m. | Last Modified: 7 Feb 2023, 10:15 a.m.
Panel Version: 2.33
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1:01 p.m. | Last Modified: 16 Mar 2022, 1:01 p.m.
Panel Version: 1.101
Created: 16 Mar 2022, 1:01 p.m.
Last Modified: 16 Mar 2022, 1:01 p.m.
Copied from panel: Growth failure in early childhood v3.87

Rebecca Foulger (Genomics England curator)

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, demoted this CNV from Green to Red because Clinical Indication R147 will be delivered by panel/exome.
Created: 30 May 2019, 10:02 a.m.
Created: 30 May 2019, 10:02 a.m.

Copied from panel: Growth failure in early childhood v3.87

Details

ISCA ID
ISCA-37420-Loss
ISCA Region Name
17q21.3 recurrent region (includes KANSL1) Loss
Chromosome
17
GRCh38 Coordinates
45627800-46087514
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
  • ClinGen
  • Expert Review Red
Phenotypes
  • Koolen-De Vries syndrome, OMIM:610443
  • Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

26 Mar 2024, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

Region: ISCA-37420-Loss was added Region: ISCA-37420-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315 Phenotypes for Region: ISCA-37420-Loss were set to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature