BRWS2
MCID: BRT039
MIFTS: 26

Baraitser-Winter Syndrome 2 (BRWS2)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Syndrome 2

MalaCards integrated aliases for Baraitser-Winter Syndrome 2:

Name: Baraitser-Winter Syndrome 2 57 72 29 13 6 70
Brws2 57 72
Syndrome, Baraitser-Winter, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
baraitser-winter syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Baraitser-Winter Syndrome 2

UniProtKB/Swiss-Prot : 72 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, is also known as brws2. An important gene associated with Baraitser-Winter Syndrome 2 is ACTG1 (Actin Gamma 1). Affiliated tissues include eye and heart, and related phenotypes are agenesis of corpus callosum and short neck

More information from OMIM: 614583 PS243310

Related Diseases for Baraitser-Winter Syndrome 2

Diseases in the Baraitser-Winter Syndrome family:

Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2

Symptoms & Phenotypes for Baraitser-Winter Syndrome 2

Human phenotypes related to Baraitser-Winter Syndrome 2:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
2 short neck 31 occasional (7.5%) HP:0000470
3 retrognathia 31 occasional (7.5%) HP:0000278
4 webbed neck 31 occasional (7.5%) HP:0000465
5 microphthalmia 31 occasional (7.5%) HP:0000568
6 ventriculomegaly 31 occasional (7.5%) HP:0002119
7 oral cleft 31 occasional (7.5%) HP:0000202
8 intellectual disability 31 very rare (1%) HP:0001249
9 ptosis 31 very rare (1%) HP:0000508
10 hearing impairment 31 very rare (1%) HP:0000365
11 hypertelorism 31 very rare (1%) HP:0000316
12 short stature 31 very rare (1%) HP:0004322
13 highly arched eyebrow 31 very rare (1%) HP:0002553
14 trigonocephaly 31 very rare (1%) HP:0000243
15 abnormality of cardiovascular system morphology 31 very rare (1%) HP:0030680
16 lissencephaly 31 very rare (1%) HP:0001339
17 postnatal microcephaly 31 very rare (1%) HP:0005484
18 coloboma 31 very rare (1%) HP:0000589
19 seizure 31 very rare (1%) HP:0001250
20 wide mouth 31 HP:0000154
21 thin upper lip vermilion 31 HP:0000219
22 long philtrum 31 HP:0000343
23 telecanthus 31 HP:0000506
24 pointed chin 31 HP:0000307
25 pachygyria 31 HP:0001302
26 abnormality of the pinna 31 HP:0000377
27 long palpebral fissure 31 HP:0000637

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
epilepsy
enlarged ventricles (in some patients)
agenesis of corpus callosum (in some patients)
pachygyria/lissencephaly

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

Head And Neck Eyes:
ptosis
microphthalmia (in some patients)
arched eyebrows
long palpebral fissures
eye coloboma (in some patients)
more
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 (Updated 20-May-2021)

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:

40
Eye, Heart

Publications for Baraitser-Winter Syndrome 2

Articles related to Baraitser-Winter Syndrome 2:

# Title Authors PMID Year
1
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 57 6
25052316 2015
2
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 57 6
22366783 2012
3
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. 57 6
3351890 1988
4
The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2. 61
28496999 2017

Variations for Baraitser-Winter Syndrome 2

ClinVar genetic disease variations for Baraitser-Winter Syndrome 2:

6 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTG1 NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) SNV Pathogenic 29585 rs281875326 GRCh37: 17:79478552-79478552
GRCh38: 17:81511526-81511526
2 ACTG1 NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) SNV Pathogenic 29586 rs281875325 GRCh37: 17:79478933-79478933
GRCh38: 17:81511907-81511907
3 ACTG1 NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) SNV Pathogenic 29587 rs11549190 GRCh37: 17:79478612-79478612
GRCh38: 17:81511586-81511586
4 ACTG1 NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) SNV Pathogenic 29588 rs281875327 GRCh37: 17:79478408-79478408
GRCh38: 17:81511382-81511382
5 ACTG1 NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) SNV Pathogenic 29589 rs281875328 GRCh37: 17:79478256-79478256
GRCh38: 17:81511230-81511230
6 ACTG1 NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) SNV Pathogenic 29590 rs281875329 GRCh37: 17:79478250-79478250
GRCh38: 17:81511224-81511224
7 ACTG1 NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys) SNV Pathogenic 813525 GRCh37: 17:79478388-79478388
GRCh38: 17:81511362-81511362
8 ACTG1 NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) SNV Likely pathogenic 452404 rs11549225 GRCh37: 17:79478405-79478405
GRCh38: 17:81511379-81511379
9 ACTG1 NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys) SNV Likely pathogenic 1012294 GRCh37: 17:79478577-79478577
GRCh38: 17:81511551-81511551
10 ACTG1 NM_001614.5(ACTG1):c.430G>A (p.Ala144Thr) SNV Likely pathogenic 434079 rs11549196 GRCh37: 17:79478586-79478586
GRCh38: 17:81511560-81511560
11 ACTG1 NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) SNV Likely pathogenic 128266 rs587780275 GRCh37: 17:79478418-79478418
GRCh38: 17:81511392-81511392
12 ACTG1 NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) SNV Likely pathogenic 374385 rs1057518673 GRCh37: 17:79479263-79479263
GRCh38: 17:81512237-81512237
13 ACTG1 NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) SNV Likely pathogenic 864856 GRCh37: 17:79478400-79478400
GRCh38: 17:81511374-81511374
14 ACTG1 NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) SNV Likely pathogenic 807363 rs1598548256 GRCh37: 17:79478288-79478288
GRCh38: 17:81511262-81511262
15 ACTG1 NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) SNV Uncertain significance 434076 rs182162229 GRCh37: 17:79478362-79478362
GRCh38: 17:81511336-81511336
16 ACTG1 NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) SNV Uncertain significance 179428 rs727504862 GRCh37: 17:79478495-79478495
GRCh38: 17:81511469-81511469
17 ACTG1 NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln) SNV Uncertain significance 689622 rs1598546921 GRCh37: 17:79477844-79477844
GRCh38: 17:81510818-81510818
18 ACTG1 NM_001614.5(ACTG1):c.457A>G (p.Met153Val) SNV Uncertain significance 473006 rs1555666789 GRCh37: 17:79478559-79478559
GRCh38: 17:81511533-81511533
19 ACTG1 NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) SNV Uncertain significance 540214 rs1555666360 GRCh37: 17:79477741-79477741
GRCh38: 17:81510715-81510715
20 ACTG1 NM_001614.5(ACTG1):c.485C>T (p.Thr162Met) SNV Uncertain significance 1029360 GRCh37: 17:79478531-79478531
GRCh38: 17:81511505-81511505
21 ACTG1 NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) SNV Uncertain significance 639093 rs11549191 GRCh37: 17:79478243-79478243
GRCh38: 17:81511217-81511217
22 ACTG1 NM_001614.5(ACTG1):c.126C>T (p.Gly42=) SNV Likely benign 379424 rs11549197 GRCh37: 17:79479166-79479166
GRCh38: 17:81512140-81512140
23 ACTG1 NM_001614.5(ACTG1):c.180C>T (p.Ser60=) SNV Likely benign 387972 rs144338558 GRCh37: 17:79479112-79479112
GRCh38: 17:81512086-81512086
24 ACTG1 NM_001614.5(ACTG1):c.984+7C>T SNV Likely benign 706325 rs369691985 GRCh37: 17:79477946-79477946
GRCh38: 17:81510920-81510920
25 ACTG1 NM_001614.5(ACTG1):c.803-4C>T SNV Likely benign 540215 rs782608976 GRCh37: 17:79478138-79478138
GRCh38: 17:81511112-81511112
26 ACTG1 NM_001614.5(ACTG1):c.802+10G>A SNV Likely benign 540216 rs1555666580 GRCh37: 17:79478204-79478204
GRCh38: 17:81511178-81511178
27 ACTG1 NM_001614.5(ACTG1):c.985-7dup Duplication Likely benign 439366 rs782289893 GRCh37: 17:79477866-79477866
GRCh38: 17:81510837-81510838
28 ACTG1 NM_001614.5(ACTG1):c.315G>A (p.Leu105=) SNV Likely benign 162720 rs202094234 GRCh37: 17:79478977-79478977
GRCh38: 17:81511951-81511951
29 ACTG1 NM_001614.5(ACTG1):c.210C>T (p.Pro70=) SNV Likely benign 706460 rs201275526 GRCh37: 17:79479082-79479082
GRCh38: 17:81512056-81512056
30 ACTG1 NM_001614.5(ACTG1):c.978G>A (p.Lys326=) SNV Likely benign 706492 rs139339869 GRCh37: 17:79477959-79477959
GRCh38: 17:81510933-81510933
31 ACTG1 NM_001614.5(ACTG1):c.803-7C>T SNV Likely benign 505843 rs150136833 GRCh37: 17:79478141-79478141
GRCh38: 17:81511115-81511115
32 ACTG1 NM_001614.5(ACTG1):c.201G>C (p.Leu67=) SNV Likely benign 774088 rs782754511 GRCh37: 17:79479091-79479091
GRCh38: 17:81512065-81512065
33 ACTG1 NM_001614.5(ACTG1):c.657C>T (p.Val219=) SNV Likely benign 774551 rs782248094 GRCh37: 17:79478359-79478359
GRCh38: 17:81511333-81511333
34 ACTG1 NM_001614.5(ACTG1):c.795C>T (p.Ser265=) SNV Likely benign 779007 rs146493032 GRCh37: 17:79478221-79478221
GRCh38: 17:81511195-81511195
35 ACTG1 NM_001614.5(ACTG1):c.364-8C>T SNV Likely benign 180117 rs201748657 GRCh37: 17:79478660-79478660
GRCh38: 17:81511634-81511634
36 ACTG1 NM_001614.5(ACTG1):c.105C>T (p.Val35=) SNV Likely benign 382898 rs11549193 GRCh37: 17:79479276-79479276
GRCh38: 17:81512250-81512250
37 ACTG1 NM_001614.5(ACTG1):c.684C>T (p.Ala228=) SNV Benign 178286 rs143125497 GRCh37: 17:79478332-79478332
GRCh38: 17:81511306-81511306
38 ACTG1 NM_001614.5(ACTG1):c.165C>T (p.Gly55=) SNV Benign 516222 rs146402466 GRCh37: 17:79479127-79479127
GRCh38: 17:81512101-81512101
39 ACTG1 NM_001614.5(ACTG1):c.72C>T (p.Asp24=) SNV Benign 227169 rs139517777 GRCh37: 17:79479309-79479309
GRCh38: 17:81512283-81512283
40 ACTG1 NM_001614.5(ACTG1):c.909C>T (p.Thr303=) SNV Benign 162713 rs187127467 GRCh37: 17:79478028-79478028
GRCh38: 17:81511002-81511002
41 ACTG1 NM_001614.5(ACTG1):c.780G>A (p.Ala260=) SNV Benign 516172 rs140846345 GRCh37: 17:79478236-79478236
GRCh38: 17:81511210-81511210
42 ACTG1 NM_001614.5(ACTG1):c.345C>T (p.Asn115=) SNV Benign 505261 rs149057480 GRCh37: 17:79478947-79478947
GRCh38: 17:81511921-81511921
43 ACTG1 NM_001614.5(ACTG1):c.714G>A (p.Lys238=) SNV Benign 210094 rs11549173 GRCh37: 17:79478302-79478302
GRCh38: 17:81511276-81511276
44 ACTG1 NM_001614.5(ACTG1):c.558C>T (p.Thr186=) SNV Benign 379380 rs142893042 GRCh37: 17:79478458-79478458
GRCh38: 17:81511432-81511432
45 ACTG1 NM_001614.5(ACTG1):c.363+7C>G SNV Benign 499511 rs782205549 GRCh37: 17:79478922-79478922
GRCh38: 17:81511896-81511896
46 ACTG1 NM_001614.5(ACTG1):c.803-6C>T SNV Benign 287889 rs199600452 GRCh37: 17:79478140-79478140
GRCh38: 17:81511114-81511114
47 ACTG1 NM_001614.5(ACTG1):c.471C>T (p.Asp157=) SNV Benign 44148 rs11549222 GRCh37: 17:79478545-79478545
GRCh38: 17:81511519-81511519
48 ACTG1 NM_001614.5(ACTG1):c.985-5T>C SNV Benign 285535 rs370546734 GRCh37: 17:79477864-79477864
GRCh38: 17:81510838-81510838
49 ACTG1 NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) SNV Benign 516556 rs143659814 GRCh37: 17:79477815-79477815
GRCh38: 17:81510789-81510789
50 ACTG1 NM_001614.5(ACTG1):c.18C>T (p.Ala6=) SNV Benign 227165 rs145211830 GRCh37: 17:79479363-79479363
GRCh38: 17:81512337-81512337

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

72
# 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

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

Sources for Baraitser-Winter Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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