BRWS2
MCID: BRT039
MIFTS: 28

Baraitser-Winter Syndrome 2 (BRWS2)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Syndrome 2

MalaCards integrated aliases for Baraitser-Winter Syndrome 2:

Name: Baraitser-Winter Syndrome 2 57 75 29 13 6 73
Brws2 57 75
Baraitser-Winter Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
baraitser-winter syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Baraitser-Winter Syndrome 2

UniProtKB/Swiss-Prot : 75 Baraitser-Winter syndrome 2: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior- predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.

MalaCards based summary : Baraitser-Winter Syndrome 2, also known as brws2, is related to baraitser-winter syndrome and deafness, autosomal dominant 20. An important gene associated with Baraitser-Winter Syndrome 2 is ACTG1 (Actin Gamma 1). Affiliated tissues include brain, heart and eye, and related phenotypes are hypertelorism and short neck

Description from OMIM: 614583

Related Diseases for Baraitser-Winter Syndrome 2

Diseases in the Baraitser-Winter Syndrome family:

Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2

Diseases related to Baraitser-Winter Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 baraitser-winter syndrome 30.0 ACTG1 FSCN2
2 deafness, autosomal dominant 20 9.7 ACTG1 FSCN2

Symptoms & Phenotypes for Baraitser-Winter Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
microphthalmia (in some patients)
long palpebral fissures
arched eyebrows
hypertelorism/telecanthus
more
Head And Neck Mouth:
long philtrum
thin upper lip
large mouth
thick/prominent/everted lower lip
cleft lip/palate (in some patients)

Head And Neck Neck:
short neck (in some patients)
pterygium colli (in some patients)

Head And Neck Nose:
large, squared nose tip
prominent nasal root on profile
short, upturned nose

Head And Neck Head:
trigonocephaly/metopic ridge

Neurologic Central Nervous System:
intellectual disability
epilepsy
enlarged ventricles (in some patients)
agenesis of corpus callosum (in some patients)
pachygyria/lissencephaly

Head And Neck Face:
pointed chin
prominent/full/wide cheeks
retrognathia (in some patients)

Head And Neck Ears:
deafness (in some patients)
abnormally shaped ears

Skeletal Spine:
kyphosis/scoliosis (in some patients)
pectus (in some patients)

Cardiovascular Heart:
heart defect (in some patients)


Clinical features from OMIM:

614583

Human phenotypes related to Baraitser-Winter Syndrome 2:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 very rare (1%) HP:0000316
2 short neck 32 occasional (7.5%) HP:0000470
3 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
4 ptosis 32 very rare (1%) HP:0000508
5 intellectual disability 32 very rare (1%) HP:0001249
6 seizures 32 very rare (1%) HP:0001250
7 hearing impairment 32 very rare (1%) HP:0000365
8 short stature 32 very rare (1%) HP:0004322
9 long philtrum 32 HP:0000343
10 retrognathia 32 occasional (7.5%) HP:0000278
11 webbed neck 32 occasional (7.5%) HP:0000465
12 abnormality of the pinna 32 HP:0000377
13 ventriculomegaly 32 occasional (7.5%) HP:0002119
14 telecanthus 32 HP:0000506
15 wide mouth 32 HP:0000154
16 microphthalmia 32 occasional (7.5%) HP:0000568
17 thin upper lip vermilion 32 HP:0000219
18 pointed chin 32 HP:0000307
19 highly arched eyebrow 32 very rare (1%) HP:0002553
20 long palpebral fissure 32 HP:0000637
21 pachygyria 32 HP:0001302
22 oral cleft 32 occasional (7.5%) HP:0000202
23 lissencephaly 32 very rare (1%) HP:0001339
24 trigonocephaly 32 very rare (1%) HP:0000243
25 postnatal microcephaly 32 very rare (1%) HP:0005484
26 coloboma 32 very rare (1%) HP:0000589

MGI Mouse Phenotypes related to Baraitser-Winter Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ACTG1 FSCN2

Drugs & Therapeutics for Baraitser-Winter Syndrome 2

Search Clinical Trials , NIH Clinical Center for Baraitser-Winter Syndrome 2

Genetic Tests for Baraitser-Winter Syndrome 2

Genetic tests related to Baraitser-Winter Syndrome 2:

# Genetic test Affiliating Genes
1 Baraitser-Winter Syndrome 2 29 ACTG1

Anatomical Context for Baraitser-Winter Syndrome 2

MalaCards organs/tissues related to Baraitser-Winter Syndrome 2:

41
Brain, Heart, Eye

Publications for Baraitser-Winter Syndrome 2

Articles related to Baraitser-Winter Syndrome 2:

# Title Authors Year
1
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2. ( 28496999 )
2017

Variations for Baraitser-Winter Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Baraitser-Winter Syndrome 2:

75
# Symbol AA change Variation ID SNP ID
1 ACTG1 p.Thr120Ile VAR_067814 rs281875325
2 ACTG1 p.Ala135Val VAR_067815 rs11549190
3 ACTG1 p.Ser155Phe VAR_067816 rs281875326
4 ACTG1 p.Thr203Lys VAR_067817 rs281875327
5 ACTG1 p.Arg254Trp VAR_067818 rs281875328
6 ACTG1 p.Arg256Trp VAR_067819 rs281875329

ClinVar genetic disease variations for Baraitser-Winter Syndrome 2:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTG1 NM_001614.3(ACTG1): c.464C> T (p.Ser155Phe) single nucleotide variant Pathogenic rs281875326 GRCh37 Chromosome 17, 79478552: 79478552
2 ACTG1 NM_001614.3(ACTG1): c.464C> T (p.Ser155Phe) single nucleotide variant Pathogenic rs281875326 GRCh38 Chromosome 17, 81511526: 81511526
3 ACTG1 NM_001614.3(ACTG1): c.359C> T (p.Thr120Ile) single nucleotide variant Pathogenic rs281875325 GRCh37 Chromosome 17, 79478933: 79478933
4 ACTG1 NM_001614.3(ACTG1): c.359C> T (p.Thr120Ile) single nucleotide variant Pathogenic rs281875325 GRCh38 Chromosome 17, 81511907: 81511907
5 ACTG1 NM_001614.3(ACTG1): c.404C> T (p.Ala135Val) single nucleotide variant Pathogenic rs11549190 GRCh37 Chromosome 17, 79478612: 79478612
6 ACTG1 NM_001614.3(ACTG1): c.404C> T (p.Ala135Val) single nucleotide variant Pathogenic rs11549190 GRCh38 Chromosome 17, 81511586: 81511586
7 ACTG1 NM_001614.3(ACTG1): c.608C> A (p.Thr203Lys) single nucleotide variant Pathogenic rs281875327 GRCh37 Chromosome 17, 79478408: 79478408
8 ACTG1 NM_001614.3(ACTG1): c.608C> A (p.Thr203Lys) single nucleotide variant Pathogenic rs281875327 GRCh38 Chromosome 17, 81511382: 81511382
9 ACTG1 NM_001614.3(ACTG1): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs281875328 GRCh37 Chromosome 17, 79478256: 79478256
10 ACTG1 NM_001614.3(ACTG1): c.760C> T (p.Arg254Trp) single nucleotide variant Pathogenic rs281875328 GRCh38 Chromosome 17, 81511230: 81511230
11 ACTG1 NM_001614.3(ACTG1): c.766C> T (p.Arg256Trp) single nucleotide variant Pathogenic rs281875329 GRCh37 Chromosome 17, 79478250: 79478250
12 ACTG1 NM_001614.3(ACTG1): c.766C> T (p.Arg256Trp) single nucleotide variant Pathogenic rs281875329 GRCh38 Chromosome 17, 81511224: 81511224
13 ACTG1 NM_001614.4(ACTG1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs11549222 GRCh37 Chromosome 17, 79478545: 79478545
14 ACTG1 NM_001614.4(ACTG1): c.471C> T (p.Asp157=) single nucleotide variant Benign rs11549222 GRCh38 Chromosome 17, 81511519: 81511519
15 ACTG1 NM_001614.3(ACTG1): c.598T> A (p.Phe200Ile) single nucleotide variant Likely pathogenic rs587780275 GRCh37 Chromosome 17, 79478418: 79478418
16 ACTG1 NM_001614.3(ACTG1): c.598T> A (p.Phe200Ile) single nucleotide variant Likely pathogenic rs587780275 GRCh38 Chromosome 17, 81511392: 81511392
17 ACTG1 NM_001614.4(ACTG1): c.521C> G (p.Ala174Gly) single nucleotide variant Uncertain significance rs727504862 GRCh38 Chromosome 17, 81511469: 81511469
18 ACTG1 NM_001614.4(ACTG1): c.521C> G (p.Ala174Gly) single nucleotide variant Uncertain significance rs727504862 GRCh37 Chromosome 17, 79478495: 79478495
19 ACTG1 NM_001614.4(ACTG1): c.364-8C> T single nucleotide variant Likely benign rs201748657 GRCh37 Chromosome 17, 79478660: 79478660
20 ACTG1 NM_001614.4(ACTG1): c.364-8C> T single nucleotide variant Likely benign rs201748657 GRCh38 Chromosome 17, 81511634: 81511634
21 ACTG1 NM_001614.3(ACTG1): c.714G> A (p.Lys238=) single nucleotide variant Benign/Likely benign rs11549173 GRCh38 Chromosome 17, 81511276: 81511276
22 ACTG1 NM_001614.3(ACTG1): c.714G> A (p.Lys238=) single nucleotide variant Benign/Likely benign rs11549173 GRCh37 Chromosome 17, 79478302: 79478302
23 ACTG1 NM_001614.3(ACTG1): c.985-5T> C single nucleotide variant Benign/Likely benign rs370546734 GRCh37 Chromosome 17, 79477864: 79477864
24 ACTG1 NM_001614.3(ACTG1): c.985-5T> C single nucleotide variant Benign/Likely benign rs370546734 GRCh38 Chromosome 17, 81510838: 81510838
25 ACTG1 NM_001199954.1(ACTG1): c.118C> T (p.His40Tyr) single nucleotide variant Likely pathogenic rs1057518673 GRCh37 Chromosome 17, 79479263: 79479263
26 ACTG1 NM_001199954.1(ACTG1): c.118C> T (p.His40Tyr) single nucleotide variant Likely pathogenic rs1057518673 GRCh38 Chromosome 17, 81512237: 81512237
27 ACTG1 NM_001614.3(ACTG1): c.39C> T (p.Gly13=) single nucleotide variant Benign/Likely benign rs146865914 GRCh37 Chromosome 17, 79479342: 79479342
28 ACTG1 NM_001614.3(ACTG1): c.39C> T (p.Gly13=) single nucleotide variant Benign/Likely benign rs146865914 GRCh38 Chromosome 17, 81512316: 81512316
29 ACTG1 NM_001614.3(ACTG1): c.654C> T (p.Tyr218=) single nucleotide variant Conflicting interpretations of pathogenicity rs182162229 GRCh37 Chromosome 17, 79478362: 79478362
30 ACTG1 NM_001614.3(ACTG1): c.654C> T (p.Tyr218=) single nucleotide variant Conflicting interpretations of pathogenicity rs182162229 GRCh38 Chromosome 17, 81511336: 81511336
31 ACTG1 NM_001614.3(ACTG1): c.430G> A (p.Ala144Thr) single nucleotide variant Likely pathogenic rs11549196 GRCh37 Chromosome 17, 79478586: 79478586
32 ACTG1 NM_001614.3(ACTG1): c.430G> A (p.Ala144Thr) single nucleotide variant Likely pathogenic rs11549196 GRCh38 Chromosome 17, 81511560: 81511560
33 ACTG1 NM_001614.4(ACTG1): c.985-5dup duplication Likely benign rs782289893 GRCh38 Chromosome 17, 81510838: 81510838
34 ACTG1 NM_001614.4(ACTG1): c.985-5dup duplication Likely benign rs782289893 GRCh37 Chromosome 17, 79477866: 79477866
35 ACTG1 NM_001614.3(ACTG1): c.457A> G (p.Met153Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 81511533: 81511533
36 ACTG1 NM_001614.3(ACTG1): c.457A> G (p.Met153Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 79478559: 79478559
37 ACTG1 NM_001614.4(ACTG1): c.803-4C> T single nucleotide variant Likely benign rs782608976 GRCh38 Chromosome 17, 81511112: 81511112
38 ACTG1 NM_001614.4(ACTG1): c.803-4C> T single nucleotide variant Likely benign rs782608976 GRCh37 Chromosome 17, 79478138: 79478138
39 ACTG1 NM_001614.4(ACTG1): c.802+10G> A single nucleotide variant Likely benign GRCh37 Chromosome 17, 79478204: 79478204
40 ACTG1 NM_001614.4(ACTG1): c.802+10G> A single nucleotide variant Likely benign GRCh38 Chromosome 17, 81511178: 81511178
41 ACTG1 NM_001614.4(ACTG1): c.1103C> T (p.Ser368Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 79477741: 79477741
42 ACTG1 NM_001614.4(ACTG1): c.1103C> T (p.Ser368Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 81510715: 81510715

Expression for Baraitser-Winter Syndrome 2

Search GEO for disease gene expression data for Baraitser-Winter Syndrome 2.

Pathways for Baraitser-Winter Syndrome 2

GO Terms for Baraitser-Winter Syndrome 2

Cellular components related to Baraitser-Winter Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 ACTG1 FSCN2
2 actin cytoskeleton GO:0015629 8.62 ACTG1 FSCN2

Sources for Baraitser-Winter Syndrome 2

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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