Holoprosencephaly and septo-optic dysplasia
Gene: STAG2EnsemblGeneIds (GRCh38): ENSG00000101972
EnsemblGeneIds (GRCh37): ENSG00000101972
OMIM: 300826, Gene2Phenotype
STAG2 is in 5 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England)
There are eight unrelated cases identified with cleft lip/ palate and two cases were identified with cleft soft palate or submucous cleft soft palate. Hence, this gene should be added with green rating to 'clefting disorders' panel.
PMID:33014403 - Two female patients identified with de novo variants in STAG2. One had cleft lip/ palate and other had cleft palate. In addition, five additional cases with cleft lip/ palate were also reported from literature review in this publication.
DECIPHER database - Of ten patients with sequence variants in STAG2 gene, one each was identified with cleft palate, cleft soft palate and submucous cleft soft palate (PMID:37010288).Created: 21 Jun 2023, 8:59 p.m. | Last Modified: 21 Jun 2023, 8:59 p.m.
Panel Version: 1.944
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Holoprosencephaly 13, X-linked, OMIM:301043; Mullegama-Klein-Martinez syndrome, OMIM:301022
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Six females reported with LoF variants in this gene and HPE spectrum disorders.
Sources: LiteratureCreated: 7 Jun 2020, 8:23 a.m.
Mode of inheritance
Other
Phenotypes
Holoprosencephaly
Publications
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Holoprosencephaly 13, X-linked, MIM# 301043
- OMIM
- 300826
- Clinvar variants
- Variants in STAG2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stag2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: STAG2 were changed from Holoprosencephaly to Holoprosencephaly 13, X-linked, MIM# 301043
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: stag2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: STAG2 was added gene: STAG2 was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: STAG2 was set to Other Publications for gene: STAG2 were set to 31334757 Phenotypes for gene: STAG2 were set to Holoprosencephaly Review for gene: STAG2 was set to GREEN