Infantile nystagmus
Gene: LRMDAAdded new gene name tag. New approved gene symbol is LRMDACreated: 8 May 2017, 10:09 a.m.
Comment on list classification: Upgraded to green due to expert review and 3 unrelated cases/families have now been reported.Created: 12 Sep 2016, 2:38 p.m.
Comment on list classification: Literature search carried out, and a novel mutation reported in PMID: 26818737. The patient was homozygous for the variant, fit with the disease segregation.Created: 12 Sep 2016, 2:35 p.m.
Comment on list classification: Gene found in 1/4 original sources, and rated green by expert reviewer. In OMIM, 6 probands from the Fahroe Islands with 1 variant, and a second variant reported by the same study in a patient of Lithuanian origin; a literature search is needed to confirm >3 unrelated cases have been reported.Created: 5 Sep 2016, 3:41 p.m.
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
C10orf11 was changed to LRMDA
new-gene-name was removed from C10orf11. Panel: Infantile nystagmus
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.
This gene has been classified as Green List (High Evidence).
C10orf11 was created by ellenmcdonagh
C10orf11 was added to Infantile nystagmuspanel. Sources: Expert Review Green