Ocular and oculo-cutaneous albinism
Gene: LRMDAEnsemblGeneIds (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
- Emory Genetics Laboratory
- 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
Changed Gene Name
GEL ()C10orf11 was changed to LRMDA
Removed Tag
GEL ()new-gene-name was removed from C10orf11. Panel: Ocular and oculo-cutaneous albinism
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)13.09.2016: Panel internally revised after expert review, and approved to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for C10orf11 were set to 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
Set publications
Ellen McDonagh (Genomics England Curator)Publications for C10orf11 were set to 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 variant in this gene is reported in a screen of patients with nonsyndromic OCA or autosomal recessive ocular albinism (full text not yet available to check how many patients this was identified in); 23395477
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for C10orf11 were set to 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 variant in this gene is reported in a screen of patients with nonsyndromic OCA or autosomal recessive ocular albinism (full text not yet available to check how many patients this was identified in).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for C10orf11 were set to 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 harbors 9 genes, including KAT6B, DUPD1, DUSP13, SAMD8, VDAC2, COMTD1, ZNF503, NCRNA00245, and C10orf11; PMID: 26818737 - a novel variant in this gene is reported in a screen of patients with nonsyndromic OCA or autosomal recessive ocular albinism (full text not yet available to check how many patients this was identified in).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)C10orf11 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Emory Genetics Laboratory
Created
Olivia Niblock (Genomics England Curator)C10orf11 was created by oniblock