RMND1

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Mitochondrial disorders

  BIALLELIC, autosomal or pseudoautosomal

• Possible mitochondrial disorder - nuclear genes

  BIALLELIC, autosomal or pseudoautosomal

• Renal tubulopathies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• combined oxidative phosphorylation defect type 11

  0.80

• mitochondrial disease

  0.61

• hereditary disease

  0.50

• nephronophthisis

  0.42

• neurodegenerative disease

  0.38

• inborn mitochondrial metabolism disorder

  0.37

• chronic kidney disease

  0.37

• stage 5 chronic kidney disease

  0.37

• renal tubular acidosis

  0.37

• Perrault syndrome 2

  0.37

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

Protein function (UniProt)