Structural eye disease
Gene: MYRF
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
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
Phenotypes for gene: MYRF were changed from Nanophthalmos to Nanophthalmos; High hyperopia
Publications for gene: MYRF were set to 31266062
Phenotypes for gene: MYRF were changed from to Nanophthalmos
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