PanelApp (test)
  1. Genes and Genomic Entities
  2. TMEM222

TMEM222

transmembrane protein 222
OMIM: 619469, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TMEM222 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470
  • Intellectual disability
  • Epilepsy
  • Microcephaly

Green TMEM222 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with motor and speech delay and behavioural abnormalities, MIM# 619470
  • Motor delay
  • Delayed speech and language development
  • Intellectual disability
  • Generalized hypotonia
  • Broad-based gait
  • Abnormality of nervous system morphology
  • Seizures
  • Microcephaly
  • Behavioral abnormality