TMEM167A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Neonatal diabetes

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodegenerative disease

  0.54

• microcephaly, epilepsy, and diabetes syndrome

  0.53

• microcephaly, epilepsy, and diabetes syndrome 1

  0.53

• Complete right bundle branch block

  0.31

• gastrointestinal disease

  0.30

• gastric cancer

  0.25

• male reproductive organ cancer

  0.17

• androgenetic alopecia

  0.16

• endometriosis

  0.14

• rheumatoid arthritis

  0.14

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

Protein function (UniProt)