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Gene: MCOLN1

Green List (high evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:30 a.m.

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MCOLN1 was added gene: MCOLN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 10441585; 15523648; 17239335; 10973263; 11030752 Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV 252650