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Skeletal dysplasia
Region: ISCA-37406-Loss
16p13.3 region (includes CREBBP) Loss

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

2 reviews

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: 2.190

Created: 16 Mar 2022, 12:27 p.m.
Last Modified: 16 Mar 2022, 12:27 p.m.
Panel version: 2.190

Eleanor Williams (Genomics England Curator)

This region was part of an initial list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Region submitted: ISCA-37406-Loss; Initial rating suggestion: none given
Created: 6 Mar 2019, 1:53 p.m.

Created: 6 Mar 2019, 1:53 p.m.

Panel version: 1.147

Details

ISCA ID

ISCA-37406-Loss

ISCA Region Name

16p13.3 region (includes CREBBP) Loss

Chromosome

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

NHS GMS
Expert Review Green
ClinGen

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

Clinvar variants

Variants in

Penetrance

None

Variant types

CNV Loss

Publications

History Filter Activity

16 Mar 2022, Gel status: 3

Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60.

7 Mar 2019, Gel status: 4

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to Region: ISCA-37406-Loss.

7 Sep 2018, Gel status: 4

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

Louise Daugherty (Genomics England Curator)

Region: ISCA-37406-Loss was added Region: ISCA-37406-Loss was added to Unexplained skeletal dysplasia. Sources: ClinGen,Expert Review Green 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 10573006; 16783566 Phenotypes for Region: ISCA-37406-Loss were set to 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

Skeletal dysplasia Region: ISCA-37406-Loss 16p13.3 region (includes CREBBP) Loss