Corneal Dystrophy
Gene: MCOLN1EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 15 panels
1 review
Chirag Patel (Genetic Health Queensland)
23 affected individuals from 13 families with Lisch epithelial corneal dystrophy. WGS in 2 families and then targeted Sanger sequencing in the other families identified 9 rare heterozygous loss of function variants in MCOLN1.
Homozygous and compound-heterozygous state of 4 of 9 LECD-associated variants cause Mucolipidosis IV (MLIV), which comprises neurodegeneration as well as corneal opacity of infantile-onset with epithelial autofluorescent lysosomal inclusions. Six parents of 3 patients with MLIV confirmed to carry pathogenic MCOLN1 variants did not have the LECD phenotype.
Heterozygous MCOLN1 variants can be associated with incomplete penetrance and variable expressivity of LECD with an estimated penetrance of 0.2% for MCOLN1 loss-of-function variants based on gnomAD.
Sources: LiteratureCreated: 3 Apr 2024, 10:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Lisch epithelial corneal dystrophy, OMIM# 620763
Publications
- PMID: 37972748,
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Lisch epithelial corneal dystrophy, OMIM# 620763
- OMIM
- 605248
- Clinvar variants
- Variants in MCOLN1
- Penetrance
- None
- Publications
-
- PMID: 37972748,
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Macrocephaly_Megalencephaly
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Corneal Dystrophy
- Syndromic Retinopathy
- Prepair 500+
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mcoln1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: mcoln1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: mcoln1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: MCOLN1 was added gene: MCOLN1 was added to Corneal Dystrophy. Sources: Literature Mode of inheritance for gene: MCOLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MCOLN1 were set to PMID: 37972748, Phenotypes for gene: MCOLN1 were set to Lisch epithelial corneal dystrophy, OMIM# 620763 Review for gene: MCOLN1 was set to GREEN gene: MCOLN1 was marked as current diagnostic