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Anophthalmia or microphthalmia

Gene: MYRF

Green List (high evidence)
MYRF (myelin regulatory factor)
EnsemblGeneIds (GRCh38): ENSG00000124920
EnsemblGeneIds (GRCh37): ENSG00000124920
OMIM: 608329, Gene2Phenotype
MYRF is in 5 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: Comment on list classification: New gene added by expert reviewer. This gene has been given a Green rating based on the level of evidence to support gene-disease association and also that it is also a Green gene on the GMS Structural eye disease (v1.0, code: 509).
Created: 29 Jan 2020, 10:02 a.m. | Last Modified: 29 Jan 2020, 10:02 a.m.
Panel Version: 1.23
Created: 29 Jan 2020, 10:02 a.m.
Last Modified: 29 Jan 2020, 10:02 a.m.
Panel version: 1.23

Owen Siggs (Flinders University)

Green List (high evidence)

Entry in OMIM (600165) for locus, subsequently ascribed to variants in MYRF in this same family and at least 7 others (PMID: 31048900, 31172260, 31700225, 31266062).

Heterozygous variants in same gene also associated with congenital heart defects (hypoplastic left heart syndrome, scimitar syndrome, septal defects, valvular anomalies), genitourinary anomalies (ambiguous genitalia, hypospadias, cryptorchidism), congenital diaphragmatic hernia, and pulmonary hypoplasia (see 31069960).
Sources: Literature
Created: 18 Jan 2020, 5:07 a.m. | Last Modified: 18 Jan 2020, 5:36 a.m.
Panel Version: 1.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Nanophthalmos; high hyperopia

Publications

Created: 18 Jan 2020, 5:07 a.m.
Last Modified: 18 Jan 2020, 5:36 a.m.
Panel version: 1.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Nanophthalmos
  • high hyperopia
OMIM
608329
Clinvar variants
Variants in MYRF
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

29 Jan 2020, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225

18 Jan 2020, Gel status: 0

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

Owen Siggs (Flinders University)

gene: MYRF was added gene: MYRF was added to Anophthalmia or microphthalmia. Sources: Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to PMID: 31048900, 31172260, 31700225 Phenotypes for gene: MYRF were set to Nanophthalmos; high hyperopia Penetrance for gene: MYRF were set to Complete Review for gene: MYRF was set to GREEN