Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: SIX2EnsemblGeneIds (GRCh38): ENSG00000170577
EnsemblGeneIds (GRCh37): ENSG00000170577
OMIM: 604994, Gene2Phenotype
SIX2 is in 2 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
A family with a dominantly inherited craniofacial phenotype (frontal bossing with high hairline, ptosis, hypertelorism, broad nasal tip, large anterior fontanelle, cranial base anomalies, and sagittal synostosis (only confirmed in one individual)) were identified on chromosomal microarray to harbour a heterozygous 108.3 kilobase deletion of chromosome 2p21 (disrupting SIX2 and the surround non-coding DNA) (PMID:26581443).
Sources: LiteratureCreated: 23 Jul 2023, 6:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
six2-related frontonasal dysplasia, MONDO:0044628; craniosynostosis, MONDO:0015469
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Literature
- Phenotypes
-
- six2-related frontonasal dysplasia, MONDO:0044628
- craniosynostosis, MONDO:0015469
- OMIM
- 604994
- Clinvar variants
- Variants in SIX2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: SIX2 was added gene: SIX2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIX2 were set to 26581443; 36980886 Phenotypes for gene: SIX2 were set to six2-related frontonasal dysplasia, MONDO:0044628; craniosynostosis, MONDO:0015469 Review for gene: SIX2 was set to RED