Genomic imprinting
Gene: SIX3EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 10 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: SIX3 has been rated as Red rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not certain.Created: 5 Jan 2021, 4:09 p.m. | Last Modified: 2 Feb 2021, 5:20 p.m.
Panel Version: 0.82
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, 4:05 p.m. | Last Modified: 5 Jan 2021, 4:05 p.m.
Panel Version: 0.28
Ellen McDonagh (Genomics England Curator)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
From the Ocular coloboma gene panel
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- PanelApp
- Phenotypes
-
- Holoprosencephaly 2 OMIM:157170
- OMIM
- 603714
- Clinvar variants
- Variants in SIX3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: six3 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: six3 has been removed from the panel.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: six3 has been removed from the panel.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SIX3 were changed from From the Ocular coloboma gene panel to Holoprosencephaly 2 OMIM:157170
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SIX3 were set to
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
Created
Ellen McDonagh (Genomics England Curator)SIX3 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SIX3 was added to Imprinted Genespanel. Sources: PanelApp