MAB21L2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Anophthalmia or microphthalmia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ocular coloboma

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Structural eye disease

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• colobomatous microphthalmia-rhizomelic dysplasia syndrome

  0.81

• syndromic microphthalmia

  0.46

• colorectal cancer

  0.21

• hereditary disease

  0.19

• hypertensive disorder

  0.16

• Abnormality of the skeletal system

  0.15

• placental abruption

  0.14

• Graves disease

  0.13

• drug-induced liver injury

  0.13

• hypothyroidism

  0.12

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

Protein function (UniProt)