STAMBP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• 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

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

• Vascular skin disorders

  BIALLELIC, autosomal or pseudoautosomal

• Cerebral vascular malformations

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• microcephaly-capillary malformation syndrome

  0.80

• neurodegenerative disease

  0.43

• stroke disorder

  0.25

• alcohol drinking

  0.24

• hereditary disease

  0.19

• breast carcinoma

  0.16

• melanoma

  0.12

• neoplasm

  0.10

• familial long QT syndrome

  0.10

• Romano-Ward syndrome

  0.10

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

Protein function (UniProt)