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  3. YME1L1
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Possible mitochondrial disorder - nuclear genes

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

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (4 sibs) with functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Optic atrophy 11, 617302

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 5:01 p.m.
Created: 29 Mar 2019, 5:01 p.m.

Panel version: 0.132

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Optic atrophy 11, 617302

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Details

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

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: yme1l1 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: YME1L1 was added gene: YME1L1 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302