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TMEM222

Chr 1p36.11

transmembrane protein 222

Aliases:
DKFZP564D0478
MANE:
ENST00000374076.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with motor and speech delay and behavioral abnormalities

    0.69
  • complex neurodevelopmental disorder

    0.37
  • hereditary disease

    0.19
  • neurodevelopmental disorder

    0.01
  • breast cancer

    0.00
  • Intellectual disability

    0.00
  • ovarian serous cystadenocarcinoma

    0.00
  • clear cell renal carcinoma

    0.00
  • cervical cancer

    0.00
  • esophageal cancer

    0.00

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.