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  3. MYRF
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Structural eye disease

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

Owen Siggs (Flinders University)

Green List (high evidence)

Multiple reports of MYRF variants in isolated or syndromic nanophthalmos or high hyperopia (PMID: 31048900, 31172260, 31266062, 31700225), including family in which NNO1 linkage mapping was performed (OMIM: 600165).
Created: 18 Jan 2020, 5:45 a.m. | Last Modified: 18 Jan 2020, 5:45 a.m.
Panel Version: 1.0

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nanophthalmos; High hyperopia

Publications

Created: 18 Jan 2020, 5:45 a.m.
Last Modified: 18 Jan 2020, 5:45 a.m.
Panel version: 1.0

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Guo paper July 2019: four de novo heterozygous variants in families with nanophthalmos: 2 x frameshift, 1 x nonsense, 1 x missense, all absent on Gnomad. No further evidence for functional effects of these variants.
Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91

Publications

Created: 2 Oct 2019, 3:48 p.m.
Last Modified: 2 Oct 2019, 3:48 p.m.
Panel version: 0.91

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Nanophthalmos
  • High hyperopia
OMIM
608329
Clinvar variants
Variants in MYRF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYRF were changed from Nanophthalmos to Nanophthalmos; High hyperopia

29 Jan 2020, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYRF were set to 31266062

1 Oct 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYRF were changed from to Nanophthalmos

1 Oct 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: MYRF was added gene: MYRF was added to Structural eye disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYRF were set to 31266062