Albinism or congenital nystagmus
Gene: LRMDAEnsemblGeneIds (GRCh38): ENSG00000148655
EnsemblGeneIds (GRCh37): ENSG00000148655
OMIM: 614537, Gene2Phenotype
LRMDA is in 6 panels
0 reviews
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
- None
- Publications
-
- 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
- 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
- 23395477
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: LRMDA was added gene: LRMDA was added to Albinism or congenital nystagmus. Sources: Expert Review Green Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LRMDA were set to 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; 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; 23395477 Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII