RAX

retina and anterior neural fold homeobox
OMIM: 601881, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green RAX in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 1.53

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 3, MIM# 611038

Green RAX in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 3, MIM# 611038

Red RAX in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.497

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • MICROPHTHALMIA, ISOLATED 3
  • MCOP3

Green RAX in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.111

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, isolated 3, 611038 (3)

Amber RAX in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.166

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Microphthalmia, syndromic 16, MIM#611038

Amber RAX in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Microphthalmia, syndromic 16, MIM#611038

Green RAX in Fetal anomalies


Version 1.481

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 3, MIM# 611038

Green RAX in Prepair 1000+


Level 2: Screening
Version 2.15

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, syndromic 16, MIM #611038

Green RAX in Prepair 500+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, syndromic 16, MIM #611038

Amber RAX in Hypogonadotropic hypogonadism

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 0.74

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Literature
Phenotypes
  • Microphthalmia, syndromic 16, MIM#611038