ACTL6A

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Marom R, et al. Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Hum Mutat. 2017;38(10):1365-1371. PMID: 28649782.

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Details physician

Email *

First Name *

Last Name *

Speciality *

Hospital Name *

City *

Country *

Details patient

Gender

Male

Female

Indifferent

Unknown

PMID

Patient Identification Number

Age of Last Examination *

Country *

Molecular and cytogenetic diagnosis

NM_Nr *

cDNA change *

Protein change *

Genomic position *

Gene name *

Hg build *

Inheritance *

de novo

inherited

unknown

Pathogenicity

Variant of unknown significance (class 3)

Likely pathogenic (class 4)

Pathogenic (class 5)

Unknown

Second mutation in case of recessive disorder

cDNA change

Genomic position

Protein change

Pathogenicity

Variant of unknown significance (class 3)

Likely pathogenic (class 4)

Pathogenic (class 5)

Unknown

Neurology

Neurological abnormalities *

Yes No Unknown

Behavioral problems *

Yes No Unknown

Brain abnormality *

Yes No Unknown

Visual and hearing impairments

Abnormal hearing *

Yes No Unknown

Abnormal vision *

Yes No Unknown

Heart

Abnormality of the heart *

Yes No Unknown

Pulmonary

Abnormality of the lungs *

Yes No Unknown

Gastrointestinal

Gastrointestinal abnormalities *

Yes No Unknown

Urogenital

Abnormality of the urogenital system *

Yes No Unknown

Skeleton

Skeletal abnormalities *

Yes No Unknown

Skin / Hair / Nails

Abnormality of the skin/hair/nails *

Yes No Unknown

Endocrine / Immunological / Metabolic

Abnormality of the endocrine system *

Yes No Unknown

Abnormality of the metabolic system *

Yes No Unknown

Abnormality of the immune system *

Yes No Unknown

Neoplasia

Neoplasia *

Yes No Unknown

Inheritance

Inheritance

Unknown

Autosomal dominant

Autosomal recessive

X-linked

Mitochondrial

Sporadic

Other

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Family details

Family details

Miscarriages

Intellectual disability

Congenital abnormality

Consanguineous family