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  2. Optic Atrophy
  3. YME1L1
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Optic Atrophy

Gene: YME1L1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported with optic atrophy
Sources: Expert list
Created: 25 May 2020, 8:31 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 11 MIM#617302

Publications

Created: 25 May 2020, 8:31 a.m.

Panel version: 0.108

Details

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

History Filter Activity

25 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

25 May 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 Optic Atrophy. Sources: 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 MIM#617302 Review for gene: YME1L1 was set to RED