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Monogenic short stature

Region: ISCA-37406-Loss

16p13.3 region (includes CREBBP) Loss

Red List (low evidence)
Chromosome: 16
GRCh38 Position: 3725055-3880120
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: Previous phenotypes: PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543
Created: 26 Mar 2024, 5:28 p.m. | Last Modified: 26 Mar 2024, 5:28 p.m.
Panel Version: 3.87
Created: 26 Mar 2024, 5:28 p.m.
Last Modified: 26 Mar 2024, 5:28 p.m.
Copied from panel: Growth failure in early childhood v3.87

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, 12:27 p.m. | Last Modified: 16 Mar 2022, 12:27 p.m.
Panel Version: 1.101
Created: 16 Mar 2022, 12:27 p.m.
Last Modified: 16 Mar 2022, 12:27 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, 10:01 a.m.
Created: 30 May 2019, 10:01 a.m.

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

Details

ISCA ID
ISCA-37406-Loss
ISCA Region Name
16p13.3 region (includes CREBBP) Loss
Chromosome
16
GRCh38 Coordinates
3725055-3880120
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
  • Chromosome 16p13.3 deletion syndrome, OMIM:610543
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-37406-Loss was added Region: ISCA-37406-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006 Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, OMIM:610543