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Holoprosencephaly - NOT chromosomal
Region: ISCA-46743-LossXq25 region (includes STAG2) Loss
Chromosome: X
GRCh38 Position: 123900469-124102669
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
GRCh38 Position: 123900469-124102669
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
Arina Puzriakova (Genomics England Curator)
The rating of this region has been updated to Green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval. Evidence: two cases (PMID: 30158690; 33758131) with intragenic STAG2 deletions but listed as sufficient evidence in ClinGen. Region encompasses STAG2 and some of XIAP. Phenotype: holoprosencephaly and/or developmental delay/ID based on LOF of STAG2 gene. Affected females are reported.Created: 2 May 2024, 9:19 a.m. | Last Modified: 2 May 2024, 9:19 a.m.
Panel Version: 4.7
Details
- ISCA ID
- ISCA-46743-Loss
- ISCA Region Name
- Xq25 region (includes STAG2) Loss
- Chromosome
- X
- GRCh38 Coordinates
- 123900469-124102669
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 60%
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- ClinGen
- Expert Review Green
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
2 May 2024, Gel status: 3
Set publications
Arina Puzriakova (Genomics England Curator)Publications for Region: ISCA-46743-Loss were set to
2 May 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Region: ISCA-46743-Loss was added Region: ISCA-46743-Loss was added to Holoprosencephaly - NOT chromosomal. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46743-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)