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  3. MCOLN1
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Leukodystrophy - adult onset

Gene: MCOLN1

Amber List (moderate evidence)
MCOLN1 (mucolipin 1)
EnsemblGeneIds (GRCh38): ENSG00000090674
EnsemblGeneIds (GRCh37): ENSG00000090674
OMIM: 605248, Gene2Phenotype
MCOLN1 is in 15 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Onset is typically in childhood, although there is some variability.
Created: 9 May 2020, 7:28 a.m. | Last Modified: 9 May 2020, 7:28 a.m.
Panel Version: 0.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mucolipidosis IV, MIM# 252650

Created: 9 May 2020, 7:28 a.m.
Last Modified: 9 May 2020, 7:28 a.m.
Panel version: 0.55

History Filter Activity

9 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcoln1 has been classified as Amber List (Moderate Evidence).

9 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mcoln1 has been classified as Amber List (Moderate Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MCOLN1 was added gene: MCOLN1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650