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Severe early-onset obesity

Region: ISCA-37486-Loss

16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss

Green List (high evidence)
Chromosome: 16
GRCh38 Position: 28811314-29035178
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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, 12:23 p.m. | Last Modified: 16 Mar 2022, 12:23 p.m.
Panel Version: 2.49
Review on behalf of Ismaa Farooqi (University of Cambridge): Rating: green. Do you report variants in this gene as part of your current diagnostic practice? Yes.
Created: 15 Aug 2019, 2:21 p.m. | Last Modified: 15 Aug 2019, 2:21 p.m.
Panel Version: 1.22

Variants in this REGION are reported as part of current diagnostic practice

Created: 15 Aug 2019, 2:21 p.m.
Last Modified: 15 Aug 2019, 2:21 p.m.
Panel version: 2.49

Details

ISCA ID
ISCA-37486-Loss
ISCA Region Name
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
Chromosome
16
GRCh38 Coordinates
28811314-29035178
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
  • Expert list
  • Expert Review Green
  • ClinGen
Phenotypes
  • developmental delay
  • 613444
  • obesity
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Triplosensitivity Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37486-Loss was changed from 28811313-29035181 to 28811314-29035178. Triplosensitivity Score for ISCA-37486-Loss was changed from None to . Required Overlap Percentage for ISCA-37486-Loss was changed from 80 to 60.

15 Aug 2019, Gel status: 3

Changed Triplosensitivity Score, Added New Source

Ivone Leong (Genomics England Curator)

Triplosensitivity Score for ISCA-37486-Loss was changed from to None. Source Expert list was added to Region: ISCA-37486-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-37486-Loss was added Region: ISCA-37486-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37486-Loss were set to 23258348; 19966786; 20808231 Phenotypes for Region: ISCA-37486-Loss were set to developmental delay; 613444; obesity