ALX4

ALX homeobox 4
OMIM: 605420, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green ALX4 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Frontonasal dysplasia 2 MIM#613451
  • Parietal foramina 2 MIM#609597

Green ALX4 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 2, MIM# 613451

Green ALX4 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 2 MIM# 613451
  • Parietal foramina 2 MIM# 609597
  • {Craniosynostosis 5, susceptibility to} MIM#615529

Amber ALX4 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 2, MIM# 613451
  • FND2 with alopecia

Red ALX4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Parietal foramina 2, MIM# 609597

    Green ALX4 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Amber ALX4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Frontonasal dysplasia 2, MIM# 613451

    Green ALX4 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Frontonasal dysplasia 2 613451

    Green ALX4 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
    • Parietal foramina 2

    Green ALX4 in Fetal anomalies


    Version 1.255

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Frontonasal dysplasia 2, MIM# 613451
    • Parietal foramina 2, MIM# 609597

    Red ALX4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Frontonasal dysplasia 2 MIM# 613451
    • Parietal foramina 2 MIM# 609597
    • {Craniosynostosis 5, susceptibility to} MIM#615529