Ocular coloboma

Gene: SIX3

Red List (low evidence)

SIX3 (SIX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 12 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)

Red List (low evidence)

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)

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

5 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SIX3 were set to 21976454; 28670735

5 Jan 2021, Gel status: 1

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

4 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SIX3 were set to 21976454

6 Feb 2017, Gel status: 0

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 0

Added New Source

Alice Gardham (Genomics England)

SIX3 was added to Ocular colobomapanel. Sources: Literature

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SIX3 was created by agardham