TMEM107

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Neurological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Ophthalmological ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Rare multisystem ciliopathy disorders

  BIALLELIC, autosomal or pseudoautosomal

• Renal ciliopathies

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic dystrophies

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Ductal plate malformation

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Meckel syndrome 13

  0.68

• orofaciodigital syndrome 16

  0.67

• orofaciodigital syndrome

  0.60

• leukoencephalopathy with calcifications and cysts

  0.56

• Meckel syndrome

  0.54

• Joubert syndrome 29

  0.45

• orofaciodigital syndrome I

  0.20

• hereditary disease

  0.19

• Meckel syndrome, type 1

  0.13

• holoprosencephaly

  0.08

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

Protein function (UniProt)