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Intellectual disability syndromic and non-syndromic

Gene: STAG2

Green List (high evidence)

STAG2 (stromal antigen 2)
EnsemblGeneIds (GRCh38): ENSG00000101972
EnsemblGeneIds (GRCh37): ENSG00000101972
OMIM: 300826, Gene2Phenotype
STAG2 is in 5 panels

1 review

Dean Phelan (Victorian Clinical Genetics Services)

12 unrelated families reported both males and females affected (OMIM).
Sources: Expert list
Created: 9 Jan 2020, 11:24 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Details

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
  • Expert Review Green
Phenotypes
  • Mullegama-Klein-Martinez syndrome, MIM#301022
OMIM
300826
Clinvar variants
Variants in STAG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stag2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STAG2 were changed from to Mullegama-Klein-Martinez syndrome, MIM#301022

9 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stag2 has been classified as Green List (High Evidence).

9 Jan 2020, Gel status: 0

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

Dean Phelan (Victorian Clinical Genetics Services)

gene: STAG2 was added gene: STAG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: STAG2 were set to 30765867; 28296084; 30447054; 29263825; 30158690