ACBD6

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with progressive movement abnormalities

  0.74

• short stature-pituitary and cerebellar defects-small sella turcica syndrome

  0.52

• hereditary disease

  0.38

• autosomal recessive non-syndromic intellectual disability

  0.37

• Intellectual disability

  0.33

• gram-positive bacterial infections

  0.27

• breast carcinoma

  0.24

• mathematical ability

  0.24

• lagophthalmos

  0.22

• post term pregnancy

  0.18

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

Protein function (UniProt)