TBC1D8

TBC1 domain family member 8
ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TBC1D8 in Mendeliome


Version 1.4516

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lennox‑Gastaut syndrome MONDO:0016532
  • non-syndromic hearing loss MONDO:0019587
  • non obstructive azoospermia or cryptozoospermia MONDO:0005372

Red TBC1D8 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.332

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • non-syndromic hearing loss MONDO:0019587

Green TBC1D8 in Infertility and Recurrent Pregnancy Loss


Version 1.120

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • non obstructive azoospermia or cryptozoospermia MONDO:0005372