BCORL1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Cytopenias and congenital anaemias

  Unknown

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• Shukla-Vernon syndrome

  0.60

• neurodegenerative disease

  0.52

• colorectal adenocarcinoma

  0.43

• oligoasthenoteratozoospermia

  0.42

• colon adenocarcinoma

  0.37

• skin basal cell carcinoma

  0.37

• lymphoid neoplasm

  0.37

• gastric adenocarcinoma

  0.37

• endometrial endometrioid adenocarcinoma

  0.37

• complex neurodevelopmental disorder

  0.37

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

Protein function (UniProt)