Infantile nystagmus
Gene: LRMDA
LRMDA (leucine rich melanocyte differentiation associated)
EnsemblGeneIds (GRCh38): ENSG00000148655
EnsemblGeneIds (GRCh37): ENSG00000148655
OMIM: 614537, Gene2Phenotype
LRMDA is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000148655
EnsemblGeneIds (GRCh37): ENSG00000148655
OMIM: 614537, Gene2Phenotype
LRMDA is in 6 panels
3 reviews
Louise Daugherty (Genomics England Curator)
Added new gene name tag. New approved gene symbol is LRMDACreated: 8 May 2017, 10:09 a.m.
Ellen McDonagh (Genomics England Curator)
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.
Penny Clouston (Oxford)
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Albinism, oculocutaneous, type VII
- OMIM
- 614537
- Clinvar variants
- Variants in LRMDA
- Penetrance
- Complete
- Publications
-
- PMID: 27031267 - identification of a 1.77-Mb de novo interstitial deletion in 10q22.2q22.3 in a female patient with 2.5-year-old female patient with developmental delay, speech delay, congenital cleft palate, and bilateral hearing impairment. The deletion included 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11
- PMID: 26818737 - a novel homozygous variant in this gene is reported a patient within a screen of Iranian patients with nonsyndromic OCA or autosomal recessive ocular albinism
- 23395477
- Panels with this gene
History Filter Activity
5 Nov 2017, Gel status: 4
Changed Gene Name
GEL ()C10orf11 was changed to LRMDA
5 Nov 2017, Gel status: 4
Removed Tag
GEL ()new-gene-name was removed from C10orf11. Panel: Infantile nystagmus
21 Dec 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
19 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
19 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)C10orf11 was created by ellenmcdonagh
19 Dec 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf11 was added to Infantile nystagmuspanel. Sources: Expert Review Green