1. Genes and Genomic Entities
  2. YME1L1

YME1L1

YME1 like 1 ATPase
OMIM: 607472, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red YME1L1 in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • Optic atrophy 617302
  • sensorineural hearing impairment
  • ataxia
  • other CNS symptoms (OPA11)
Amber YME1L1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Amber
    Phenotypes
    • ?Optic atrophy 11, 617302
    Amber YME1L1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Optic atrophy 11, 617302
    Amber YME1L1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • ?Optic atrophy 11, 617302