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  2. Ocular coloboma
  3. SIX6
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Ocular coloboma

Gene: SIX6

Amber List (moderate evidence)
SIX6 (SIX homeobox 6)
EnsemblGeneIds (GRCh38): ENSG00000184302
EnsemblGeneIds (GRCh37): ENSG00000184302
OMIM: 606326, Gene2Phenotype
SIX6 is in 6 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Most commonly associated with optic nerve dysplasia, retinal dystrophy, and microphthalmia but can cause coloboma. Only reported in small numbers
Created: 17 Nov 2016, 10:50 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Optic disc anomalies with retinal and/or macular dystrophy, 212550

Publications

Created: 17 Nov 2016, 10:50 a.m.

Panel version: 0.42

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, 212550
OMIM
606326
Clinvar variants
Variants in SIX6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

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

17 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

SIX6 was created by agardham

17 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

SIX6 was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen