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Inborn errors of metabolism

Gene: YME1L1

Amber List (moderate evidence)

YME1L1 (YME1 like 1 ATPase)
EnsemblGeneIds (GRCh38): ENSG00000136758
EnsemblGeneIds (GRCh37): ENSG00000136758
OMIM: 607472, Gene2Phenotype
YME1L1 is in 4 panels

1 review

Catherine Snow (Genomics England)

One family (4 sibs) with functional studies reported in PMID: 27495975
Created: 18 Nov 2019, 4:08 p.m. | Last Modified: 18 Nov 2019, 4:08 p.m.
Panel Version: 1.406

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • ?Optic atrophy 11, 617302
OMIM
607472
Clinvar variants
Variants in YME1L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Nov 2019, Gel status: 2

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

Catherine Snow (Genomics England)

gene: YME1L1 was added gene: YME1L1 was added to Inborn errors of metabolism. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YME1L1 were set to 27495975 Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302