SIX1

SIX homeobox 1
OMIM: 601205, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SIX1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.145

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Branchiootic syndrome 3, MIM#608389
    • Deafness, autosomal dominant 23, MIM# 605192

    Green SIX1 in Craniosynostosis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.68

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sagittal synostosis
    • Multi-suture synostosis

    Green SIX1 in Mendeliome


    Version 1.2374

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Deafness, autosomal dominant 23, MIM# 605192
    • Branchiootic syndrome 3, MIM# 608389
    • Sagittal synostosis
    • Multi-suture synostosis

    Green SIX1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.213

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Deafness, autosomal dominant 23, MIM# 605192
    • Branchiootic syndrome 3, MIM# 608389

    Green SIX1 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.67

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Deafness, autosomal dominant 23, MIM# 605192
    • Brancio-otic syndrome MIM# 608389

    Green SIX1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Branchiootorenal syndrome

    Green SIX1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • BOS3
    • BRANCHIOOTIC SYNDROME 3

    Red SIX1 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Deafness, autosomal dominant 23 (MIM# 605192)
    • Branchiootic syndrome 3 (MIM# 608389)

    Red SIX1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Branchiootic syndrome 3, MIM# 608389