TMEM126A:Ensemblv115

transmembrane protein 126A
OMIM: 612988, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TMEM126A in Optic Atrophy


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Optic atrophy 7, MIM# 612989
  • MONDO:0013069

Amber TMEM126A in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Literature
  • Expert Review Amber
Phenotypes
  • Optic atrophy 7 MIM#612989
  • Syndromic auditory neuropathy spectrum disorder

Green TMEM126A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Optic atrophy 7, 612989 (3)

Amber TMEM126A in Auditory Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Optic atrophy 7 MIM#612989
  • Syndromic auditory neuropathy spectrum disorder

Green TMEM126A in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Optic atrophy 7 MIM#612989