LMBR1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Limb disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Radial dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Skeletal dysplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• VACTERL-like phenotypes

Disease associations (Open Targets)

• polydactyly of a triphalangeal thumb

  0.78

• Triphalangeal thumb - polysyndactyly syndrome

  0.72

• laurin-Sandrow syndrome

  0.71

• triphalangeal thumb-polysyndactyly syndrome

  0.70

• tibia, hypoplasia or aplasia of, with polydactyly

  0.69

• syndactyly type 4

  0.66

• Absent tibia - polydactyly

  0.64

• Acheiropodia

  0.64

• acheiropody

  0.60

• Hypoplastic tibiae - postaxial polydactyly

  0.60

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

Protein function (UniProt)