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Anophthalmia_Microphthalmia_Coloboma
Gene: RAX

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.
Created: 28 Dec 2020, 3:43 a.m. | Last Modified: 28 Dec 2020, 3:43 a.m.

Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 3, MIM# 611038

Publications

Created: 28 Dec 2020, 3:43 a.m.
Last Modified: 28 Dec 2020, 3:43 a.m.
Panel version: 0.138

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microphthalmia, isolated 3, MIM# 611038

OMIM

Clinvar variants

Variants in RAX

Penetrance

None

Publications

Panels with this gene

History Filter Activity

28 Dec 2020, 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).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RAX were set to

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RAX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAX was added gene: RAX was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RAX was set to Unknown