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  3. ISCA-37440-Loss
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Common deletion and duplication syndromes

Region: ISCA-37440-Loss

2p21 deletion syndrome

Green List (high evidence)
Chromosome: 2
GRCh38 Position: 44183133-44362502
Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established CNV

Includes the deletion of SLC3A1, PREPL, C2orf34 and PPM1B

Hypotonia-cystinuria syndrome is the deletion of only SLC3A1 and PREPL
Sources: Expert list
Created: 1 Dec 2020, 9:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
2p21 deletion syndrome

Publications

Created: 1 Dec 2020, 9:48 p.m.

Panel version: 0.75

Details

ISCA ID
ISCA-37440-Loss
ISCA Region Name
2p21 deletion syndrome
Chromosome
2
GRCh38 Coordinates
44183133-44362502
Haploinsufficiency Score
Gene associated with autosomal recessive phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 2p21 deletion syndrome
  • Hypotonia-cystinuria syndrome, MIM# 606407
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

3 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37440-loss has been classified as Green List (High Evidence).

3 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37440-Loss were changed from 2p21 deletion syndrome to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407

3 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37440-loss has been classified as Green List (High Evidence).

1 Dec 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

Region: ISCA-37440-Loss was added Region: ISCA-37440-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250 Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome Review for Region: ISCA-37440-Loss was set to GREEN