LRMDA

leucine rich melanocyte differentiation associated
OMIM: 614537, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green LRMDA in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VII
Green LRMDA in Ocular and oculo-cutaneous albinism


Version 1.23

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Albinism, oculocutaneous, type VII
Red LRMDA in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green LRMDA in Albinism or congenital nystagmus


Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type VII
Red LRMDA in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.83
Latest signed off version: v4.0 (22 Mar 2023)

review Not set
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Eye Disorders
Red LRMDA in Structural eye disease


Version 3.76
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ALBINISM, OCULOCUTANEOUS, TYPE VII, 615179
  • Eye Disorders