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Prepair 1000+

Gene: RAX

Green List (high evidence)
RAX (retina and anterior neural fold homeobox)
EnsemblGeneIds (GRCh38): ENSG00000134438
EnsemblGeneIds (GRCh37): ENSG00000134438
OMIM: 601881, Gene2Phenotype
RAX is in 7 panels

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

Characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland. Some patients exhibit developmental delay and intellectual disability or autism.
>10 unrelated families described.
Created: 31 Dec 2024, 3:48 a.m. | Last Modified: 31 Dec 2024, 3:48 a.m.
Panel Version: 1.978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, syndromic 16, MIM #611038

Publications

Created: 31 Dec 2024, 3:48 a.m.
Last Modified: 31 Dec 2024, 3:48 a.m.
Panel version: 1.978

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microphthalmia, syndromic 16, MIM #611038
OMIM
601881
Clinvar variants
Variants in RAX
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rax has been classified as Green List (High Evidence).

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAX were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Microphthalmia, isolated 3, 611038 (3) for gene: RAX

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAX was added gene: RAX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)