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Fetal anomalies

Gene: STAG1

Red List (low evidence)
STAG1 (stromal antigen 1)
EnsemblGeneIds (GRCh38): ENSG00000118007
EnsemblGeneIds (GRCh37): ENSG00000118007
OMIM: 604358, Gene2Phenotype
STAG1 is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Bibb (C&S GLH)

Red List (low evidence)

R21 reanalysis case presenting with small brain, underdeveloped cerebral hemispheres, small ceberellum, mild ventriculomegaly, short splenium and clenched hands. Homozygous for a pathogenic variant in the STAG1 gene due to de novo variant with UPD, this finding is causally related to the features identified by ultrasound scan. OMIM Biallelic not reported. Green on ID and early onset epilepsy panels with respect to dominant disorder. Literature total 19 patients 18 unrelated families de novo monoallellic variants mostly presenting with syndromic unspecified ID. Unlikely that biallelic variants will be seen given that monoallelic variants are associated with a clinical phenotype.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal dominant 47, MIM#617635

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted STAG1 gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for STAG1 syndromic intellectual disability
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.161

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 47, OMIM:617635
OMIM
604358
Clinvar variants
Variants in STAG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: STAG1 were changed from Intellectual developmental disorder, autosomal dominant 47, OMIM:617635; STAG1 syndromic intellectual disability to Intellectual developmental disorder, autosomal dominant 47, OMIM:617635

20 Feb 2025, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to STAG1. Mode of inheritance for gene STAG1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Added phenotypes Intellectual developmental disorder, autosomal dominant 47, OMIM:617635 for gene: STAG1 Publications for gene: STAG1 were updated from to 28119487; 39224759; 34440290

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to STAG1. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: STAG1 was added gene: STAG1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STAG1 were set to STAG1 syndromic intellectual disability