1. Panels
  2. Ocular and Oculocutaneous Albinism
  3. LRMDA
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Ocular and Oculocutaneous Albinism

Gene: LRMDA

Green List (high evidence)
LRMDA (leucine rich melanocyte differentiation associated)
EnsemblGeneIds (GRCh38): ENSG00000148655
EnsemblGeneIds (GRCh37): ENSG00000148655
OMIM: 614537, Gene2Phenotype
LRMDA is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 4 Jun 2021, 7:59 a.m. | Last Modified: 4 Jun 2021, 7:59 a.m.
Panel Version: 0.41

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070

Publications

Created: 4 Jun 2021, 7:59 a.m.
Last Modified: 4 Jun 2021, 7:59 a.m.
Panel version: 0.41

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VII, MIM# 615179
  • MONDO:0014070
OMIM
614537
Clinvar variants
Variants in LRMDA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrmda has been classified as Green List (High Evidence).

4 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070

4 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRMDA were set to

4 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRMDA was added gene: LRMDA was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRMDA was set to Unknown