Glaucoma (developmental)
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
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
ocular albinism and nystagmus gene, no evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE VII; 615179
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). ocular albinism and nystagmus gene, no evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE VII; 615179
Louise Daugherty (Genomics England Curator)
Added new gene name tag. New approved gene symbol is LRMDACreated: 8 May 2017, 10:08 a.m.
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 614537
- Clinvar variants
- Variants in LRMDA
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
5 Nov 2017, Gel status: 1
Changed Gene Name
GEL ()C10orf11 was changed to LRMDA
5 Nov 2017, Gel status: 1
Removed Tag
GEL ()new-gene-name was removed from C10orf11. Panel: Glaucoma (developmental)
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)C10orf11 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory