1. Genes and Genomic Entities
  2. SIX6

SIX6

SIX homeobox 6
OMIM: 606326, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red SIX6 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia with cataract 2, 212550
Amber SIX6 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, 212550
Green SIX6 in Fetal anomalies


Version 3.169
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550
  • Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
Red SIX6 in DDG2P


Version 3.90
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550
    Green SIX6 in Anophthalmia or microphthalmia

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.51

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550
    Green SIX6 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Microphthalmia with cataract 2, 212550
    • Anophthalmia/Microphthalmia
    • Optic disc anomalies with retinal and/or macular dystrophy, 212550