Sarah Leigh Mode of inheritance for gene: SIX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sarah Leigh changed review comment from: Comment on list classification: SIX3 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.; to: Comment on list classification: SIX3 has been rated as Red rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not certain.
Sarah Leigh changed review comment from: Comment on list classification: SIX3 has been demoted the rating to 'Grey' on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.; to: Comment on list classification: SIX3 has been demoted to a 'Grey' rating on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.
Sarah Leigh Added comment: Comment on list classification: SIX3 has been demoted the rating to 'Grey' on this panel, as an imprinting mechanism for Holoprosencephaly 2 is not proven.
Sarah Leigh Added comment: 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).
Sarah Leigh 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