Ocular coloboma
Gene: SIX3EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: SIX3 was previously listed as an imprinted gene, with maternal expression. It would appear that this is not the case, although there is variable penetrance of the Holoprosencephaly 2 157170 phenotype in at least three unrelated families (PMID 17001667;19353631;19346217).Created: 5 Jan 2021, 4:01 p.m. | Last Modified: 5 Jan 2021, 4:04 p.m.
Panel Version: 1.41
Alice Gardham (Genomics England)
Coloboma occasionally seen in holoprosencephaly spectrumCreated: 16 Nov 2016, 12:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
Holoprosencephaly 2 157170
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Literature
- Phenotypes
-
- Holoprosencephaly 2 157170
- OMIM
- 603714
- Clinvar variants
- Variants in SIX3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SIX3 were set to 21976454; 28670735
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SIX3 were set to 21976454
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Added New Source
Alice Gardham (Genomics England)SIX3 was added to Ocular colobomapanel. Sources: Literature
Created
Alice Gardham (Genomics England)SIX3 was created by agardham