TBC1D2B

TBC1 domain family member 2B
OMIM: 619152, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TBC1D2B 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 seizures and gingival overgrowth (NEDSGO), MIM#619323
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Gingival overgrowth
  • Behavioral abnormality
  • Abnormality of the mandible
  • Abnormality of brain morphology
  • Abnormality of the eye
  • Hearing abnormality

Green TBC1D2B in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO), MIM#619323
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • Gingival overgrowth
  • Behavioral abnormality
  • Abnormality of the mandible
  • Abnormality of brain morphology
  • Abnormality of the eye
  • Hearing abnormality