Hyperammonaemia
Gene: MCOLN1
MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucolipidosis IV
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 605248
- Clinvar variants
- Variants in MCOLN1
- Penetrance
- Complete
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Likely inborn error of metabolism
- Mucopolysaccharideosis, Gaucher, Fabry
- Inherited white matter disorders
- Hyperammonaemia
- Adult onset leukodystrophy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Retinal disorders
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)MCOLN1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory