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  3. YME1L1
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Mitochondrial disease

Gene: YME1L1

Amber List (moderate evidence)
YME1L1 (YME1 like 1 ATPase)
EnsemblGeneIds (GRCh38): ENSG00000136758
EnsemblGeneIds (GRCh37): ENSG00000136758
OMIM: 607472, Gene2Phenotype
YME1L1 is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Created: 18 Mar 2020, 9:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 11, MIM#617302

Publications

Created: 18 Mar 2020, 9:24 a.m.

Panel version: Imported from Mendeliome panel version 0.1769

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One consanguineous family with a homozygous variant and functional assays. YME1L leads to mitochondrial fragmentation and severely disorganized and attenuated cristae architecture in in vitro functional assays.
Sources: NHS GMS
Created: 18 Mar 2020, 6:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 11 MIM#617302

Publications

Created: 18 Mar 2020, 6:14 a.m.

Panel version: 0.197

Details

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

History Filter Activity

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Mar 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: yme1l1 has been classified as Red List (Low Evidence).

18 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: YME1L1 was added gene: YME1L1 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YME1L1 were set to 30544562; 27495975 Phenotypes for gene: YME1L1 were set to Optic atrophy 11 MIM#617302 Review for gene: YME1L1 was set to AMBER