Genomic imprinting
Gene: SIX3Comment 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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Phenotypes
From the Ocular coloboma gene panel
Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: six3 has been classified as Red List (Low Evidence).
Gene: six3 has been removed from the panel.
Gene: six3 has been removed from the panel.
Phenotypes for gene: SIX3 were changed from From the Ocular coloboma gene panel to Holoprosencephaly 2 OMIM:157170
Publications for gene: SIX3 were set to
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
SIX3 was created by ellenmcdonagh
SIX3 was added to Imprinted Genespanel. Sources: PanelApp