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  2. Test panel testing 2020-07-27
  3. ISCA-37446-Gain

Test panel testing 2020-07-27

Region: ISCA-37446-Gain

22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain

No list
Chromosome: 22
GRCh38 Position: 18924718-21111384
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain
TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 0 panels

1 review

Reviewer Test (GenomicsEnglandTesting)

Green List (high evidence)

and another thing
Created: 27 Jul 2020, 2:03 p.m. | Last Modified: 27 Jul 2020, 2:03 p.m.
Panel Version: 1.13
review and another
Created: 27 Jul 2020, 2 p.m. | Last Modified: 27 Jul 2020, 2:01 p.m.
Panel Version: 1.13
Sources: Expert list
Created: 27 Jul 2020, 1:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual disability and congenital abnormalities,Autism

Created: 27 Jul 2020, 1:58 p.m.
Last Modified: 27 Jul 2020, 2:01 p.m.
Panel version: 1.13

Details

ISCA ID
ISCA-37446-Gain
ISCA Region Name
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
Chromosome
22
GRCh38 Coordinates
18924718-21111384
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Intellectual disability and congenital abnormalities,Autism
OMIM
602054
Clinvar variants
Variants in TBX1
Penetrance
None
Variant types
CNV Gain

History Filter Activity

27 Jul 2020, Gel status: 0

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

Reviewer Test (GenomicsEnglandTesting)

Region: ISCA-37446-Gain was added Region: ISCA-37446-Gain was added to Test panel testing 2020-07-27. Sources: Expert list Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37446-Gain were set to Intellectual disability and congenital abnormalities,Autism Review for Region: ISCA-37446-Gain was set to GREEN