Infantile nystagmus
Gene: FRMD7
This is the main gene associated with idiopathic infantile nystagmusCreated: 28 Nov 2016, 8:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Nystagmus 1, congenital, X-linked; Nystagmus, infantile periodic alternating, X-linked
Publications
Variants in this GENE are reported as part of current diagnostic practice
21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.
Publications for FRMD7 were set to 17013395; 17397053; 17846367; 24688117; 21303855; 18431453
This gene has been classified as Green List (High Evidence).
FRMD7 was added to Infantile nystagmuspanel. Source: UKGTN
FRMD7 was added to Infantile nystagmuspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene FRMD7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
FRMD7 was added to Infantile nystagmuspanel. Source: Radboud University Medical Center, Nijmegen
FRMD7 was created by ellenmcdonagh
FRMD7 was added to Infantile nystagmuspanel. Sources: Eligibility statement prior genetic testing