SMS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Clefting

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

• DDG2P

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

• Early onset or syndromic epilepsy

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

• Fetal anomalies

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

• Intellectual disability

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

• Monogenic hearing loss

Disease associations (Open Targets)

• syndromic X-linked intellectual disability Snyder type

  0.81

• X-linked intellectual disability, Snyder type

  0.77

• hereditary disease

  0.48

• Intellectual disability

  0.34

• autoimmune disorder of central nervous system

  0.34

• neurodegenerative disease

  0.33

• Smith-Magenis syndrome

  0.27

• developmental disability

  0.12

• colorectal carcinoma

  0.08

• pancreatic neoplasm

  0.08

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

Protein function (UniProt)