Table 3. [Allelic Disorders]. - GeneReviews®

Gene	Pathogenic Variant(s)	Disorder/Phenotype	References/OMIM/ GeneReview
ACTB	p.Arg183Trp	Dystonia-deafness syndrome. Drug-nonresponsive dystonia & early-onset sensorineural deafness w/variable presence of dysmorphism, DD/ID, scoliosis, & epilepsy	Skogseid et al [2018], Freitas et al [2019], OMIM 607371
LoF variants	Described in ~40 persons w/DD, ID, internal organ malformations (incl CHDs & renal tract anomalies), growth restriction, & facial dysmorphism distinct from BWCFF syndrome (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, prominent chin)	Cuvertino et al [2017], Baumann et al [2020]
LoF variants (missense, small deletions, & single-base-pair insertion) clustering in 3′ region, exons 5 & 6	Syndromic thrombocytopenia. Mild DD, mild variable dysmorphism, microcephaly, & leukocytosis as well as thrombocytopenia w/platelet anisotropy (variable size incl normal & enlarged platelets). Recurrent infection, photosensitivity &/or malformations (cleft lip, CHD), arrhythmia, & periventricular nodular heterotopias may occur.	Nunoi et al [1999], Latham et al [2018], Sandestig et al [2019]
7p22.1 microdeletions involving ACTB	Variable presentation, w/nonspecific DD, short stature, microcephaly, & dysmorphic traits	Shimojima et al [2016]
ACTG1	Several missense variants	Autosomal dominant nonsyndromic progressive sensorineural hearing loss (DFNA20/26)	Hereditary Hearing Loss and Deafness Overview
p.Pro70Leu	Isolated coloboma in 2 unrelated persons	Rainger et al [2017]

Gene

Pathogenic Variant(s)

Disorder/Phenotype

References/OMIM/
GeneReview

ACTB

p.Arg183Trp

Dystonia-deafness syndrome. Drug-nonresponsive dystonia & early-onset sensorineural deafness w/variable presence of dysmorphism, DD/ID, scoliosis, & epilepsy

Skogseid et al [2018], Freitas et al [2019], OMIM 607371

LoF variants

Described in ~40 persons w/DD, ID, internal organ malformations (incl CHDs & renal tract anomalies), growth restriction, & facial dysmorphism distinct from BWCFF syndrome (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, prominent chin)

Cuvertino et al [2017], Baumann et al [2020]

LoF variants (missense, small deletions, & single-base-pair insertion) clustering in 3′ region, exons 5 & 6

Syndromic thrombocytopenia. Mild DD, mild variable dysmorphism, microcephaly, & leukocytosis as well as thrombocytopenia w/platelet anisotropy (variable size incl normal & enlarged platelets). Recurrent infection, photosensitivity &/or malformations (cleft lip, CHD), arrhythmia, & periventricular nodular heterotopias may occur.

Nunoi et al [1999], Latham et al [2018], Sandestig et al [2019]

7p22.1 microdeletions involving ACTB

Variable presentation, w/nonspecific DD, short stature, microcephaly, & dysmorphic traits

Shimojima et al [2016]

ACTG1

Several missense variants

Autosomal dominant nonsyndromic progressive sensorineural hearing loss (DFNA20/26)

Hereditary Hearing Loss and Deafness Overview

p.Pro70Leu

Isolated coloboma in 2 unrelated persons

Rainger et al [2017]

From: Baraitser-Winter Cerebrofrontofacial Syndrome

GeneReviews^® [Internet].

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