1. Genes and Genomic Entities
  2. SIX3

SIX3

SIX homeobox 3
OMIM: 603714, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Red SIX3 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 2, OMIM:157170
  • alobar holoprosencephaly, MONDO:0019757
Red SIX3 in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.8
Latest signed off version: v7.0 (30 Apr 2025)

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Holoprosencephaly-2
  • Schizencephaly
Red SIX3 in Ocular coloboma

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Holoprosencephaly 2 157170
Green SIX3 in Holoprosencephaly - NOT chromosomal


Level 2: Neurology
Version 5.11
Latest signed off version: v5.1 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Other
    Phenotypes
    • Holoprosencephaly-2
    • Holoprosencephaly
    • Holoprosencephaly 2, 157170
    Green SIX3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY
    Green SIX3 in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY 609637
    Green SIX3 in Clefting


    Level 2: Musculoskeletal
    Version 6.23
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • HOLOPROSENCEPHALY 2
    • HPE2
    Amber SIX3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.159
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Literature
    Phenotypes
    • Holoprosencephaly 2 157170
    • Schizencephaly 269160
    Green SIX3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Holoprosencephaly-2, 157170
    • Schizensephaly, 269160
    • HOLOPROSENCEPHALY
    Amber SIX3 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.40
    Latest signed off version: v4.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Holoprosencephaly 2 157170