POC1A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Severe insulin resistance and lipodystrophy syndromes

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Insulin resistance (including lipodystrophy)

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

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Disease associations (Open Targets)

• short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

  0.78

• isolated growth hormone deficiency type IA

  0.51

• Insulin resistance

  0.37

• Fanconi anemia complementation group Q

  0.37

• Primary microcephaly

  0.37

• autosomal recessive primary microcephaly

  0.37

• Non-acquired isolated growth hormone deficiency

  0.26

• hereditary disease

  0.20

• microcephaly

  0.11

• Abnormality of the skeletal system

  0.08

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

Protein function (UniProt)