1. Genes and Genomic Entities
  2. TMEM114

TMEM114

transmembrane protein 114
OMIM: 611579, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TMEM114 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.12
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cataract and microphthalmia
Red TMEM114 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CONGENITAL AND JUVENILE CATARACT 611579