Optic neuropathy

Gene: YME1L1

Red List (low evidence)

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

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Optic atrophy 617302; sensorineural hearing impairment; ataxia; other CNS symptoms (OPA11)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • Optic atrophy 617302
  • sensorineural hearing impairment
  • ataxia
  • other CNS symptoms (OPA11)
OMIM
607472
Clinvar variants
Variants in YME1L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: YME1L1 were changed from to Optic atrophy 617302; sensorineural hearing impairment; ataxia; other CNS symptoms (OPA11)

19 Mar 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: YME1L1 were set to

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: YME1L1 was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: YME1L1 was added gene: YME1L1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: YME1L1 was set to