Ocular colobomaGene: SIX3
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
Coloboma occasionally seen in holoprosencephaly spectrum
Created: 16 Nov 2016, 12:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Holoprosencephaly 2 157170
Publications for gene: SIX3 were set to 21976454; 28670735
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
Publications for gene: SIX3 were set to 21976454
Promoted to version 1 on 6th February 2016 by Alice Gardham
SIX3 was added to Ocular colobomapanel. Sources: Literature
SIX3 was created by agardham