BRWS1
MCID: BRT038
MIFTS: 41

Baraitser-Winter Syndrome 1 (BRWS1)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Baraitser-Winter Syndrome 1

MalaCards integrated aliases for Baraitser-Winter Syndrome 1:

Name: Baraitser-Winter Syndrome 1 56 73 29 13 6
Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation 56 73 71
Cerebrofrontofacial Syndrome 56 73 71
Fryns-Aftimos Syndrome 56 73 71
Pachygyria, Mental Retardation, Epilepsy, and Characteristic Facies 56 73
Mental Retardation with Epilepsy and Characteristic Facies 56 73
Cerebrooculofacial Lymphatic Syndrome 56 73
Chromosome 7p22 Deletion Syndrome 56 73
Brws1 56 73
Cofls 56 73
Cerebrooculofacial Lymphatic Syndrome; Cofls 56
Syndrome, Baraitser-Winter, Type 1 39
Hypertelorism 43

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
some patients have a deletion of chromosome 7p22.1, consistent with a contiguous gene deletion syndrome


HPO:

31
baraitser-winter syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Baraitser-Winter Syndrome 1

OMIM : 56 BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). (243310)

MalaCards based summary : Baraitser-Winter Syndrome 1, also known as iris coloboma with ptosis, hypertelorism, and mental retardation, is related to hypertelorism and hypertelorism, teebi type, and has symptoms including seizures An important gene associated with Baraitser-Winter Syndrome 1 is ACTB (Actin Beta). The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain and heart, and related phenotypes are retrognathia and cleft upper lip

UniProtKB/Swiss-Prot : 73 Baraitser-Winter syndrome 1: 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.

Related Diseases for Baraitser-Winter Syndrome 1

Diseases in the Baraitser-Winter Syndrome family:

Baraitser-Winter Syndrome 1 Baraitser-Winter Syndrome 2

Diseases related to Baraitser-Winter Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 457)
# Related Disease Score Top Affiliating Genes
1 hypertelorism 12.7
2 hypertelorism, teebi type 12.6
3 hypertelorism, microtia, facial clefting syndrome 12.6
4 intellectual developmental disorder with hypertelorism and distinctive facies 12.4
5 hypertelorism, preauricular sinus, punctal pits, and deafness 12.4
6 intellectual deficit - short stature - hypertelorism 12.4
7 hypertelorism and tetralogy of fallot 12.3
8 hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes 12.3
9 intellectual disability-short stature-hypertelorism syndrome 12.2
10 donnai-barrow syndrome 12.2
11 corpus callosum agenesis-macrocephaly-hypertelorism syndrome 12.1
12 opitz-gbbb syndrome 12.1
13 opitz gbbb syndrome, type ii 12.1
14 opitz gbbb syndrome, type i 12.0
15 baraitser-winter syndrome 12.0
16 acrofrontofacionasal dysostosis 2 12.0
17 hamamy syndrome 12.0
18 elsahy-waters syndrome 12.0
19 gastrocutaneous syndrome 11.9
20 saethre-chotzen syndrome 11.9
21 hartsfield syndrome 11.8
22 seaver cassidy syndrome 11.8
23 craniofacial-deafness-hand syndrome 11.7
24 noonan syndrome with multiple lentigines 11.7
25 mandibulofacial dysostosis with macroblepharon and macrostomia 11.7
26 wolf-hirschhorn syndrome 11.6
27 craniofrontonasal syndrome 11.6
28 frontonasal dysplasia 1 11.5
29 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 11.4
30 external auditory canal, bilateral atresia of, with congenital vertical talus 11.4
31 bagatelle cassidy syndrome 11.4
32 santos mateus leal syndrome 11.4
33 sotos syndrome 1 11.4
34 acromelic frontonasal dysostosis 11.4
35 telecanthus 11.4
36 noonan syndrome 1 11.3
37 oculodentodigital dysplasia 11.3
38 3mc syndrome 1 11.3
39 3mc syndrome 2 11.3
40 opitz-kaveggia syndrome 11.3
41 gillessen-kaesbach-nishimura syndrome 11.2
42 krauss herman holmes syndrome 11.2
43 greig cephalopolysyndactyly syndrome 11.2
44 apert syndrome 11.2
45 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.2
46 lubs x-linked mental retardation syndrome 11.2
47 axenfeld-rieger syndrome, type 3 11.2
48 bohring-opitz syndrome 11.2
49 frontonasal dysplasia 2 11.2
50 baraitser-winter syndrome 2 11.2

Graphical network of the top 20 diseases related to Baraitser-Winter Syndrome 1:



Diseases related to Baraitser-Winter Syndrome 1

Symptoms & Phenotypes for Baraitser-Winter Syndrome 1

Human phenotypes related to Baraitser-Winter Syndrome 1:

31 (show all 44)
# Description HPO Frequency HPO Source Accession
1 retrognathia 31 occasional (7.5%) HP:0000278
2 cleft upper lip 31 occasional (7.5%) HP:0000204
3 microphthalmia 31 occasional (7.5%) HP:0000568
4 highly arched eyebrow 31 occasional (7.5%) HP:0002553
5 ventriculomegaly 31 occasional (7.5%) HP:0002119
6 oral cleft 31 occasional (7.5%) HP:0000202
7 duplication of phalanx of hallux 31 occasional (7.5%) HP:0010066
8 intellectual disability 31 HP:0001249
9 global developmental delay 31 HP:0001263
10 hypertelorism 31 HP:0000316
11 short neck 31 HP:0000470
12 muscular hypotonia 31 HP:0001252
13 wide nasal bridge 31 HP:0000431
14 short nose 31 HP:0003196
15 microcephaly 31 HP:0000252
16 sensorineural hearing impairment 31 HP:0000407
17 anteverted nares 31 HP:0000463
18 short stature 31 HP:0004322
19 failure to thrive 31 HP:0001508
20 abnormality of metabolism/homeostasis 31 HP:0001939
21 cryptorchidism 31 HP:0000028
22 postnatal growth retardation 31 HP:0008897
23 low-set ears 31 HP:0000369
24 low posterior hairline 31 HP:0002162
25 epicanthus 31 HP:0000286
26 ptosis 31 HP:0000508
27 bicuspid aortic valve 31 HP:0001647
28 wide mouth 31 HP:0000154
29 micropenis 31 HP:0000054
30 overfolded helix 31 HP:0000396
31 iris coloboma 31 HP:0000612
32 chorioretinal coloboma 31 HP:0000567
33 patent ductus arteriosus 31 HP:0001643
34 thin upper lip vermilion 31 HP:0000219
35 long philtrum 31 HP:0000343
36 pointed chin 31 HP:0000307
37 agenesis of corpus callosum 31 HP:0001274
38 midface retrusion 31 HP:0011800
39 pachygyria 31 HP:0001302
40 trigonocephaly 31 HP:0000243
41 aortic valve stenosis 31 HP:0001650
42 generalized hypotonia 31 HP:0001290
43 long palpebral fissure 31 HP:0000637
44 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
hypotonia
developmental delay
seizures (in some patients)
enlarged ventricles (in some patients)
more
Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly
trigonocephaly
metopic ridging

Growth Other:
failure to thrive
pre- and postnatal growth retardation

Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in some patients)
abnormally shaped ears
overfolded helices

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Mouth:
thin upper lip
large mouth
thick/prominent/everted lower lip
cleft lip/palate (in some patients)

Genitourinary External Genitalia Male:
small penis

Genitourinary Kidneys:
renal abnormalities

Skeletal Limbs:
limited extension of knees and elbows (in some patients)

Laboratory Abnormalities:
chromosome inversion - inv2(p12q14) in 2 patients

Head And Neck Eyes:
hypertelorism
ptosis
chorioretinal coloboma
prominent epicanthal folds
microphthalmia (rare)
more
Head And Neck Nose:
short nose
broad nasal bridge
upturned nose
large, squared nose tip
prominent nasal root on profile

Growth Height:
short stature
height in childhood <5th percentile

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
bicuspid aortic valve
aortic stenosis

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

Skin Nails Hair Hair:
low posterior hair line

Growth Weight:
weight in childhood <5th percentile

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

Skeletal Feet:
duplicated hallux (rare)

Clinical features from OMIM:

243310

UMLS symptoms related to Baraitser-Winter Syndrome 1:


seizures

Drugs & Therapeutics for Baraitser-Winter Syndrome 1

Drugs for Baraitser-Winter Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
3
Simvastatin Approved Phase 2 79902-63-9 54454
4 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
5 Lipid Regulating Agents Phase 2
6 Hypolipidemic Agents Phase 2
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2
9 Anesthetics Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12 Gastrointestinal Agents Phase 1, Phase 2
13 Cholic Acids Phase 1, Phase 2
14 Phytosterol

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
5 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
6 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
7 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
8 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
9 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
10 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
11 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
12 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search NIH Clinical Center for Baraitser-Winter Syndrome 1

Cochrane evidence based reviews: hypertelorism

Genetic Tests for Baraitser-Winter Syndrome 1

Genetic tests related to Baraitser-Winter Syndrome 1:

# Genetic test Affiliating Genes
1 Baraitser-Winter Syndrome 1 29 ACTB

Anatomical Context for Baraitser-Winter Syndrome 1

MalaCards organs/tissues related to Baraitser-Winter Syndrome 1:

40
Brain, Heart

Publications for Baraitser-Winter Syndrome 1

Articles related to Baraitser-Winter Syndrome 1:

(show all 24)
# Title Authors PMID Year
1
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder. 6 56
29220674 2017
2
Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 6 56
25052316 2015
3
Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. 6 56
23756437 2014
4
Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. 56 6
23649928 2013
5
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 56 6
22366783 2012
6
A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. 56 6
11311002 2001
7
New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes. 6 56
10928857 2000
8
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? 56 6
10327243 1999
9
Acrocallosal syndrome: report of a Brazilian girl. 6 56
1415343 1992
10
7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly. 61 56
27633570 2016
11
Baraitser-Winter Cerebrofrontofacial Syndrome 6
26583190 2015
12
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 56
16685646 2006
13
Severe epilepsy and pachygyria associated with peculiar facial traits characterize Fryns-Aftimos syndrome. 56
15794188 2005
14
Cerebro-fronto-facial syndrome: report of a further case. 56
15057132 2004
15
Cerebro-oculo-facial-lymphatic syndrome. 56
12702162 2003
16
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 56
12325076 2002
17
Cerebro-fronto-facial syndrome: three types? 56
11311000 2001
18
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. 56
11311001 2001
19
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation. 56
10649800 2000
20
Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. 56
7545868 1995
21
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2. 56
1865474 1991
22
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. 56
3351890 1988
23
Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents. 56
457136 1979
24
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene. 61
29388391 2018

Variations for Baraitser-Winter Syndrome 1

ClinVar genetic disease variations for Baraitser-Winter Syndrome 1:

6 (show top 50) (show all 75) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ACTB NM_001101.5(ACTB):c.350A>T (p.Glu117Val)SNV Pathogenic 438274 rs1554329516 7:5568805-5568805 7:5529174-5529174
2 ACTB NM_001101.5(ACTB):c.351G>T (p.Glu117Asp)SNV Pathogenic 431099 rs765265404 7:5568804-5568804 7:5529173-5529173
3 ACTB NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter)SNV Pathogenic 495295 rs1554329068 7:5567390-5567390 7:5527759-5527759
4 ACTB NM_001101.5(ACTB):c.329del (p.Leu110fs)deletion Pathogenic 495296 rs1554329523 7:5568826-5568826 7:5529195-5529195
5 ACTB NM_001101.5(ACTB):c.193C>G (p.Leu65Val)SNV Pathogenic 29601 rs281875332 7:5568962-5568962 7:5529331-5529331
6 ACTB NM_001101.5(ACTB):c.34A>G (p.Asn12Asp)SNV Pathogenic 29602 rs281875331 7:5569255-5569255 7:5529624-5529624
7 ACTB NM_001101.5(ACTB):c.349G>A (p.Glu117Lys)SNV Pathogenic 66051 rs397515470 7:5568806-5568806 7:5529175-5529175
8 ACTB NM_001101.5(ACTB):c.446C>T (p.Thr149Ile)SNV Pathogenic 127169 rs587779775 7:5568268-5568268 7:5528637-5528637
9 ACTB NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)SNV Pathogenic 127161 rs281875332 7:5568962-5568962 7:5529331-5529331
10 ACTB NM_001101.5(ACTB):c.209C>T (p.Pro70Leu)SNV Pathogenic 127162 rs587779769 7:5568946-5568946 7:5529315-5529315
11 ACTB NM_001101.5(ACTB):c.34A>C (p.Asn12His)SNV Pathogenic 127166 rs281875331 7:5569255-5569255 7:5529624-5529624
12 ACTB NM_001101.5(ACTB):c.356T>C (p.Met119Thr)SNV Pathogenic 127167 rs587779773 7:5568799-5568799 7:5529168-5529168
13 ACTB NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)SNV Pathogenic 127168 rs587779774 7:5568796-5568796 7:5529165-5529165
14 ACTB NM_001101.5(ACTB):c.586C>A (p.Arg196Ser)SNV Pathogenic 127170 rs281875333 7:5568128-5568128 7:5528497-5528497
15 ACTB NM_001101.5(ACTB):c.611C>G (p.Ala204Gly)SNV Pathogenic 127171 rs587779776 7:5568103-5568103 7:5528472-5528472
16 ACTB NM_001101.5(ACTB):c.628C>T (p.Arg210Cys)SNV Pathogenic 807362 7:5568086-5568086 7:5528455-5528455
17 ACTB NM_001101.5(ACTB):c.616C>T (p.Arg206Trp)SNV Pathogenic 860924 7:5568098-5568098 7:5528467-5528467
18 ACTB NM_001101.5(ACTB):c.587G>A (p.Arg196His)SNV Pathogenic 29599 rs281875334 7:5568127-5568127 7:5528496-5528496
19 ACTB NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys)SNV Pathogenic 218132 rs368352689 7:5567417-5567417 7:5527786-5527786
20 ACTB NM_001101.5(ACTB):c.802G>C (p.Gly268Arg)SNV Pathogenic 264642 rs1554329269 7:5567912-5567912 7:5528281-5528281
21 ACTB NM_001101.5(ACTB):c.586C>T (p.Arg196Cys)SNV Pathogenic/Likely pathogenic 29600 rs281875333 7:5568128-5568128 7:5528497-5528497
22 ACTB NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)SNV Pathogenic/Likely pathogenic 18275 rs104894003 7:5568167-5568167 7:5528536-5528536
23 ACTB NM_001101.5(ACTB):c.625G>A (p.Val209Met)SNV Pathogenic/Likely pathogenic 127172 rs587779777 7:5568089-5568089 7:5528458-5528458
24 ACTB NM_001101.5(ACTB):c.64G>A (p.Ala22Thr)SNV Likely pathogenic 128262 rs587780273 7:5569225-5569225 7:5529594-5529594
25 ACTB NM_001101.5(ACTB):c.220G>A (p.Gly74Ser)SNV Likely pathogenic 127163 rs587779770 7:5568935-5568935 7:5529304-5529304
26 ACTB NM_001101.5(ACTB):c.224T>C (p.Ile75Thr)SNV Likely pathogenic 127164 rs587779771 7:5568931-5568931 7:5529300-5529300
27 ACTB NM_001101.5(ACTB):c.269_271del (p.Phe90del)deletion Likely pathogenic 488462 rs1554329546 7:5568884-5568886 7:5529253-5529255
28 ACTB NM_001101.5(ACTB):c.217C>T (p.His73Tyr)SNV Likely pathogenic 520411 rs786205585 7:5568938-5568938 7:5529307-5529307
29 ACTB NM_001101.5(ACTB):c.1013C>T (p.Ser338Phe)SNV Likely pathogenic 438273 rs1554329113 7:5567494-5567494 7:5527863-5527863
30 ACTB NM_001101.5(ACTB):c.527T>C (p.Leu176Pro)SNV Likely pathogenic 446430 rs1554329331 7:5568187-5568187 7:5528556-5528556
31 ACTB NM_001101.5(ACTB):c.113C>T (p.Pro38Leu)SNV Likely pathogenic 466230 rs1554329646 7:5569176-5569176 7:5529545-5529545
32 ACTB NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)SNV Likely pathogenic 577358 rs1562720119 7:5569270-5569270 7:5529639-5529639
33 ACTB NM_001101.5(ACTB):c.219C>G (p.His73Gln)SNV Likely pathogenic 620046 rs1166509821 7:5568936-5568936 7:5529305-5529305
34 ACTB NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)SNV Conflicting interpretations of pathogenicity 265318 rs886039472 7:5568097-5568097 7:5528466-5528466
35 ACTB NM_001101.5(ACTB):c.82C>G (p.Arg28Gly)SNV Conflicting interpretations of pathogenicity 279942 rs886041270 7:5569207-5569207 7:5529576-5529576
36 ACTB NM_001101.5(ACTB):c.209C>A (p.Pro70His)SNV Uncertain significance 828115 7:5568946-5568946 7:5529315-5529315
37 ACTB NM_001101.5(ACTB):c.124-3C>TSNV Uncertain significance 578597 rs1189379541 7:5569034-5569034 7:5529403-5529403
38 ACTB NM_001101.5(ACTB):c.123+1G>ASNV Uncertain significance 203375 rs794729643 7:5569165-5569165 7:5529534-5529534
39 ACTB NM_001101.5(ACTB):c.307G>C (p.Val103Leu)SNV Uncertain significance 127165 rs587779772 7:5568848-5568848 7:5529217-5529217
40 ACTB NM_001101.5(ACTB):c.686C>T (p.Thr229Met)SNV Uncertain significance 565729 rs1464535596 7:5568028-5568028 7:5528397-5528397
41 ACTB NM_001101.5(ACTB):c.44G>C (p.Gly15Ala)SNV Uncertain significance 534590 rs865913177 7:5569245-5569245 7:5529614-5529614
42 ACTB NM_001101.5(ACTB):c.1097dup (p.Ser368fs)duplication Uncertain significance 495294 rs1554329078 7:5567409-5567410 7:5527778-5527779
43 ACTB NM_001101.5(ACTB):c.1011C>T (p.Tyr337=)SNV Likely benign 534592 rs748194756 7:5567496-5567496 7:5527865-5527865
44 ACTB NM_001101.5(ACTB):c.198C>T (p.Thr66=)SNV Likely benign 534591 rs750565033 7:5568957-5568957 7:5529326-5529326
45 ACTB NM_001101.5(ACTB):c.1107C>T (p.Ile369=)SNV Likely benign 516170 rs71531321 7:5567400-5567400 7:5527769-5527769
46 ACTB NM_001101.5(ACTB):c.1089C>T (p.Asp363=)SNV Likely benign 516169 rs370848417 7:5567418-5567418 7:5527787-5527787
47 ACTB NM_001101.5(ACTB):c.882C>T (p.Tyr294=)SNV Likely benign 466232 rs774758801 7:5567737-5567737 7:5528106-5528106
48 ACTB NM_001101.5(ACTB):c.669C>T (p.Phe223=)SNV Likely benign 466231 rs369943480 7:5568045-5568045 7:5528414-5528414
49 ACTB NM_001101.5(ACTB):c.264C>T (p.His88=)SNV Likely benign 534593 rs574137728 7:5568891-5568891 7:5529260-5529260
50 ACTB NM_001101.5(ACTB):c.732C>T (p.Asp244=)SNV Likely benign 695586 7:5567982-5567982 7:5528351-5528351

UniProtKB/Swiss-Prot genetic disease variations for Baraitser-Winter Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 ACTB p.Asn12Asp VAR_067810 rs281875331
2 ACTB p.Leu65Val VAR_067811 rs281875332
3 ACTB p.Arg196Cys VAR_067812 rs281875333
4 ACTB p.Arg196His VAR_067813 rs281875334

Expression for Baraitser-Winter Syndrome 1

Search GEO for disease gene expression data for Baraitser-Winter Syndrome 1.

Pathways for Baraitser-Winter Syndrome 1

GO Terms for Baraitser-Winter Syndrome 1

Sources for Baraitser-Winter Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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