AMMECR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

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

• IUGR and IGF abnormalities

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

Disease associations (Open Targets)

• Alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis

  0.70

• Short stature

  0.45

• short stature due to GHSR deficiency

  0.37

• nephrocalcinosis

  0.27

• neurodegenerative disease

  0.19

• Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

  0.18

• hypogonadism

  0.07

• adolescent idiopathic scoliosis

  0.03

• psoriasis

  0.02

• lung cancer

  0.02

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