Genes in panel

Neurodegenerative disorders - adult onset

Gene: MCOLN1

Red List (low evidence)

MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Onset in first year of life
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis IV

History Filter Activity

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MCOLN1.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MCOLN1.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MCOLN1 was added gene: MCOLN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: MCOLN1 was set to Unknown Phenotypes for gene: MCOLN1 were set to Dystonia