ASXL3

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Bainbridge MN et al.De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Genome Med. 2013;5(2):11. PMID: 23383720.

Srivastava A et al.De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Hum Mol Genet. 2016;25(3):597-608. PMID: 26647312.

Kuechler A et al.Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur J Hum Genet. 2017;25(2):183-191. PMID: 27901041.

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Hospital Name *

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Details patient

Gender

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PMID

Patient Identification Number

Age of Last Examination *

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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 *

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Brain abnormality *

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Visual and hearing impairments

Abnormal hearing *

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Abnormal vision *

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Heart

Abnormality of the heart *

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Pulmonary

Abnormality of the lungs *

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Gastrointestinal

Gastrointestinal abnormalities *

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Urogenital

Abnormality of the urogenital system *

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Skeleton

Skeletal abnormalities *

Yes No Unknown

Skin / Hair / Nails

Abnormality of the skin/hair/nails *

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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 *

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Inheritance

Inheritance

Unknown

Autosomal dominant

Autosomal recessive

X-linked

Mitochondrial

Sporadic

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Family details

Family details

Miscarriages

Intellectual disability

Congenital abnormality

Consanguineous family