KDVS
MCID: KLN006
MIFTS: 38

Koolen-De Vries Syndrome (KDVS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Koolen-De Vries Syndrome

MalaCards integrated aliases for Koolen-De Vries Syndrome:

Name: Koolen-De Vries Syndrome 58 12 26 60 38 30 13 6
17q21.31 Microdeletion Syndrome 12 77 54 26 60
Kansl1-Related Intellectual Disability Syndrome 12 25 54 26
Kdvs 58 12 26 60
Microdeletion 17q21.31 Syndrome 58 54 26
Koolen De Vries Syndrome 12 54 15
Monosomy 17q21.31 54 26 60
Chromosome 17q21.31 Microdeletion Syndrome 54 26
Chromosome 17q21.31 Deletion Syndrome 58 74
17q21.31 Deletion Syndrome 54 26
Syndrome, Koolen-De Vries 41
Koolen Syndrome 26
Del(17)(q21.31) 60

Characteristics:

Orphanet epidemiological data:

60
koolen-de vries syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
17q21.31 microdeletion syndrome
Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
all cases are de novo
estimated prevalence of 1 in 16,000
contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism


HPO:

33
koolen-de vries syndrome:
Onset and clinical course variable expressivity
Inheritance contiguous gene syndrome autosomal dominant inheritance sporadic


GeneReviews:

25
Penetrance Penetrance is 100%: clinical features of kansl1-related intellectual disability syndrome are apparent in all individuals with the deletion or a kansl1 pathogenic variant, although the extent and severity of clinical findings vary among individuals...

Classifications:



Summaries for Koolen-De Vries Syndrome

NIH Rare Diseases : 54 Koolen de Vries syndrome is a disorder characterized by developmental delay, mild to moderate intellectual disability, congenital malformations, and behavioral features. Developmental delay is noted from an early age. Other problems include weak muscle tone (hypotonia) in childhood, recurrent seizures (epilepsy), and distinctive facial features. Males with Koolen de Vries syndrome often have undescended testes (cryptorchidism). Other symptoms may include defects in the walls between the chambers of the heart (septal defects) or other heart defects, kidney problems, and skeletal anomalies such as foot deformities. It is caused by mutations in the KANSL1 gene, or by the loss of a small amount of genetic material in chromosome 17 that includes the KANSL1 gene (chromosome 17 q21.31 microdeletion). Inheritance is autosomal dominant. Treatment may include physiotherapy, speech therapy, and educational programs, as well as medication for epilepsy and surgical treatment for malformations needing to be corrected.

MalaCards based summary : Koolen-De Vries Syndrome, also known as 17q21.31 microdeletion syndrome, is related to koolen-de vries syndrome due to a point mutation and alacrima, achalasia, and mental retardation syndrome, and has symptoms including dry skin An important gene associated with Koolen-De Vries Syndrome is KANSL1 (KAT8 Regulatory NSL Complex Subunit 1). Affiliated tissues include heart, kidney and testes, and related phenotypes are ptosis and intellectual disability

Disease Ontology : 12 A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has material basis in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene.

Genetics Home Reference : 26 Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood. About half have recurrent seizures (epilepsy).

OMIM : 58 Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012). (610443)

Wikipedia : 77 17q21.31 microdeletion syndrome, also known as Koolen–de Vries syndrome (KdVS), is a rare genetic... more...

GeneReviews: NBK24676

Related Diseases for Koolen-De Vries Syndrome

Diseases in the Koolen-De Vries Syndrome family:

Koolen-De Vries Syndrome Due to a Point Mutation

Diseases related to Koolen-De Vries Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 koolen-de vries syndrome due to a point mutation 12.6
2 alacrima, achalasia, and mental retardation syndrome 10.4
3 hypotonia 10.4
4 polydactyly 10.1
5 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1
6 epilepsy 10.1

Graphical network of the top 20 diseases related to Koolen-De Vries Syndrome:



Diseases related to Koolen-De Vries Syndrome

Symptoms & Phenotypes for Koolen-De Vries Syndrome

Human phenotypes related to Koolen-De Vries Syndrome:

60 33 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 frequent (33%) Very frequent (99-80%) HP:0000508
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 wide nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000431
7 thick nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0009928
8 epicanthus 60 33 frequent (33%) Very frequent (99-80%) HP:0000286
9 everted lower lip vermilion 60 33 frequent (33%) Very frequent (99-80%) HP:0000232
10 protruding ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000411
11 prominent nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000426
12 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
13 broad forehead 60 33 frequent (33%) Very frequent (99-80%) HP:0000337
14 upslanted palpebral fissure 60 33 frequent (33%) Very frequent (99-80%) HP:0000582
15 overfolded helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0000396
16 long face 60 33 very rare (1%) Very frequent (99-80%) HP:0000276
17 bulbous nose 60 33 frequent (33%) Very frequent (99-80%) HP:0000414
18 high forehead 60 33 frequent (33%) Very frequent (99-80%) HP:0000348
19 blepharophimosis 60 33 frequent (33%) Very frequent (99-80%) HP:0000581
20 overfriendliness 60 33 hallmark (90%) Very frequent (99-80%) HP:0100025
21 generalized hypotonia 33 hallmark (90%) HP:0001290
22 seizures 60 33 very rare (1%) Frequent (79-30%) HP:0001250
23 scoliosis 60 33 frequent (33%) Occasional (29-5%) HP:0002650
24 kyphosis 60 33 frequent (33%) Occasional (29-5%) HP:0002808
25 narrow palate 60 33 frequent (33%) Frequent (79-30%) HP:0000189
26 abnormality of the dentition 60 33 frequent (33%) Frequent (79-30%) HP:0000164
27 feeding difficulties in infancy 60 33 frequent (33%) Frequent (79-30%) HP:0008872
28 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
29 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
30 microdontia 60 33 frequent (33%) Frequent (79-30%) HP:0000691
31 cryptorchidism 60 33 very rare (1%) Frequent (79-30%) HP:0000028
32 high, narrow palate 60 33 very rare (1%) Frequent (79-30%) HP:0002705
33 ventriculomegaly 60 33 very rare (1%) Frequent (79-30%) HP:0002119
34 hypopigmentation of hair 60 33 frequent (33%) Frequent (79-30%) HP:0005599
35 hip dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0002827
36 hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000047
37 arachnodactyly 60 33 very rare (1%) Frequent (79-30%) HP:0001166
38 nasal speech 60 33 frequent (33%) Frequent (79-30%) HP:0001611
39 aplasia/hypoplasia of the corpus callosum 60 33 frequent (33%) Frequent (79-30%) HP:0007370
40 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
41 abnormality of hair texture 60 33 frequent (33%) Frequent (79-30%) HP:0010719
42 high palate 33 frequent (33%) HP:0000218
43 macrotia 33 frequent (33%) HP:0000400
44 hip dysplasia 33 frequent (33%) HP:0001385
45 delayed speech and language development 33 frequent (33%) HP:0000750
46 joint hypermobility 33 frequent (33%) HP:0001382
47 slender finger 33 frequent (33%) HP:0001238
48 positional foot deformity 33 frequent (33%) HP:0005656
49 conspicuously happy disposition 33 frequent (33%) HP:0100024
50 hypermetropia 33 frequent (33%) HP:0000540

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Behavioral Psychiatric Manifestations:
anxiety
hyperactivity
impulsivity
friendly behavior (89%) autistic features

Genitourinary Kidneys:
hydronephrosis
duplex renal system

Muscle Soft Tissue:
hypotonia
hypoplasia of the hand muscles (29%)

Head And Neck Nose:
high nasal bridge
tubular nose (82%)
pear-shaped nose (82%)
bulbous nasal tip (95%)

Abdomen Gastrointestinal:
poor feeding

Skeletal:
hypermobile joints

Growth Weight:
low birth weight (27%)

Head And Neck Eyes:
hypermetropia (36%)
pale irides (45%)
strabismus (45%)
upward-slanted palpebral fissures (68%)
blepharophimosis (36%)
more
Respiratory Larynx:
tracheo/laryngomalacia

Skeletal Spine:
scoliosis/kyphosis (36%)

Skeletal Limbs:
slender lower limbs (41%)

Skeletal Feet:
positional foot deformity (27%)

Voice:
nasal speech (50%)

Head And Neck Mouth:
cleft palate
open mouth
cleft lip
everted lower lip
high, narrow palate (50%)

Skin Nails Hair Skin:
dry skin
eczema
sacral dimple
pigmentary abnormalities
ectodermal abnormalities (67%)

Cardiovascular Heart:
atrial septal defect
bicuspid aortic valve
ventricular septal defect
pulmonary valve stenosis
heart defects (40%)
more
Neurologic Central Nervous System:
heterotopia
hypoplastic corpus callosum
mental retardation, mild to severe
poor speech development
developmental delay (100%)
more
Chest Ribs Sternum Clavicles And Scapulae:
widely spaced nipples
pectus abnormalities (23%)

Genitourinary Bladder:
vesicoureteric reflux

Head And Neck Ears:
anteverted ears
overfolded helices
large, prominent ears (59%)

Growth Height:
short stature (35%)

Head And Neck Face:
long face (74%)
high, broad forehead (68%)
broad chin (42%)

Head And Neck Teeth:
small widely spaced teeth

Genitourinary:
kidney/urologic anomalies (45%)

Skeletal Pelvis:
hip dislocation (27%)

Skeletal Hands:
narrow hands (28%)
long, slender fingers (61%)
hypoplasia of the hand muscles (29%)

Skin Nails Hair Hair:
abnormal hair pigmentation (55%)
abnormal hair texture (55%)

Clinical features from OMIM:

610443

UMLS symptoms related to Koolen-De Vries Syndrome:


dry skin

Drugs & Therapeutics for Koolen-De Vries Syndrome

Search Clinical Trials , NIH Clinical Center for Koolen-De Vries Syndrome

Genetic Tests for Koolen-De Vries Syndrome

Genetic tests related to Koolen-De Vries Syndrome:

# Genetic test Affiliating Genes
1 Koolen-De Vries Syndrome 30 KANSL1

Anatomical Context for Koolen-De Vries Syndrome

MalaCards organs/tissues related to Koolen-De Vries Syndrome:

42
Heart, Kidney, Testes, Skin, Brain

Publications for Koolen-De Vries Syndrome

Articles related to Koolen-De Vries Syndrome:

(show all 24)
# Title Authors Year
1
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. ( 29225339 )
2018
2
Anaesthesia and orphan disease: a child with Koolen-de Vries syndrome. ( 30376488 )
2018
3
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients. ( 28440867 )
2017
4
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil. ( 28588437 )
2017
5
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. ( 26306646 )
2016
6
17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome. ( 26897099 )
2016
7
Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review. ( 27852077 )
2016
8
TWO CASES WITH DIFFERENT EPILEPSY TYPE AND DYSMORPHIC FEATURES ASSOCIATED WITH 17q21.31 MICRODELETION SYNDROME. ( 30204964 )
2016
9
An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs. ( 25858762 )
2015
10
Vitiligo in the Koolen-de Vries or 17q21.31 microdeletion syndrome. ( 25719359 )
2015
11
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome. ( 26293599 )
2015
12
Hypopigmented skin patches in 17q21.31 microdeletion syndrome: expanding the spectrum of cutaneous findings. ( 24300293 )
2014
13
Monozygotic twins with 17q21.31 microdeletion syndrome. ( 24909117 )
2014
14
Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome. ( 23169757 )
2013
15
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. ( 22293690 )
2012
16
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. ( 22482802 )
2012
17
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. ( 22544363 )
2012
18
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. ( 22544367 )
2012
19
A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients. ( 22659270 )
2012
20
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. ( 21094706 )
2011
21
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. ( 19447831 )
2009
22
17q21.31 microdeletion syndrome: further expanding the clinical phenotype. ( 20110647 )
2009
23
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. ( 18628315 )
2008
24
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. ( 16906164 )
2006

Variations for Koolen-De Vries Syndrome

ClinVar genetic disease variations for Koolen-De Vries Syndrome:

6 (show top 50) (show all 305)
# Gene Variation Type Significance SNP ID Assembly Location
1 KANSL1 NM_001193466.1(KANSL1): c.1816C> T (p.Arg606Ter) single nucleotide variant Pathogenic rs281865469 GRCh37 Chromosome 17, 44143935: 44143935
2 KANSL1 NM_001193466.1(KANSL1): c.1816C> T (p.Arg606Ter) single nucleotide variant Pathogenic rs281865469 GRCh38 Chromosome 17, 46066569: 46066569
3 KANSL1 NM_001193466.1(KANSL1): c.2785_2786delAG (p.Arg929Glyfs) deletion Pathogenic rs281865471 GRCh37 Chromosome 17, 44110497: 44110498
4 KANSL1 NM_001193466.1(KANSL1): c.2785_2786delAG (p.Arg929Glyfs) deletion Pathogenic rs281865471 GRCh38 Chromosome 17, 46033131: 46033132
5 KANSL1 NM_001193466.1(KANSL1): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs281865468 GRCh37 Chromosome 17, 44248594: 44248594
6 KANSL1 NM_001193466.1(KANSL1): c.916C> T (p.Gln306Ter) single nucleotide variant Pathogenic rs281865468 GRCh38 Chromosome 17, 46171228: 46171228
7 KANSL1 NM_001193466.1(KANSL1): c.1652+1G> A single nucleotide variant Pathogenic rs281865470 GRCh37 Chromosome 17, 44144914: 44144914
8 KANSL1 NM_001193466.1(KANSL1): c.1652+1G> A single nucleotide variant Pathogenic rs281865470 GRCh38 Chromosome 17, 46067548: 46067548
9 KANSL1 NM_001193466.1(KANSL1): c.985_986delTT (p.Leu329Glufs) deletion Uncertain significance rs281865473 GRCh38 Chromosome 17, 46171158: 46171159
10 KANSL1 NM_001193466.1(KANSL1): c.1867_1870delATCC (p.Ile623Alafs) deletion Pathogenic rs281865472 GRCh37 Chromosome 17, 44128049: 44128052
11 KANSL1 NM_001193466.1(KANSL1): c.1867_1870delATCC (p.Ile623Alafs) deletion Pathogenic rs281865472 GRCh38 Chromosome 17, 46050683: 46050686
12 KANSL1 NM_001193466.1(KANSL1): c.985_986delTT (p.Leu329Glufs) deletion Uncertain significance rs281865473 GRCh37 Chromosome 17, 44248524: 44248525
13 17q21.31 Microdeletion deletion Pathogenic
14 KANSL1 NM_001193466.1(KANSL1): c.1938C> T (p.Pro646=) single nucleotide variant Benign rs371047711 GRCh37 Chromosome 17, 44127981: 44127981
15 KANSL1 NM_001193466.1(KANSL1): c.1938C> T (p.Pro646=) single nucleotide variant Benign rs371047711 GRCh38 Chromosome 17, 46050615: 46050615
16 KANSL1 NM_001193466.1(KANSL1): c.2109A> G (p.Leu703=) single nucleotide variant Benign/Likely benign rs34101027 GRCh37 Chromosome 17, 44117162: 44117162
17 KANSL1 NM_001193466.1(KANSL1): c.2109A> G (p.Leu703=) single nucleotide variant Benign/Likely benign rs34101027 GRCh38 Chromosome 17, 46039796: 46039796
18 KANSL1 NM_001193466.1(KANSL1): c.2481C> T (p.Ser827=) single nucleotide variant Benign/Likely benign rs143653891 GRCh37 Chromosome 17, 44115964: 44115964
19 KANSL1 NM_001193466.1(KANSL1): c.2481C> T (p.Ser827=) single nucleotide variant Benign/Likely benign rs143653891 GRCh38 Chromosome 17, 46038598: 46038598
20 KANSL1 NM_001193466.1(KANSL1): c.2628C> T (p.Arg876=) single nucleotide variant Benign/Likely benign rs149756887 GRCh37 Chromosome 17, 44111565: 44111565
21 KANSL1 NM_001193466.1(KANSL1): c.2628C> T (p.Arg876=) single nucleotide variant Benign/Likely benign rs149756887 GRCh38 Chromosome 17, 46034199: 46034199
22 KANSL1 NM_001193466.1(KANSL1): c.2698G> A (p.Gly900Arg) single nucleotide variant Benign/Likely benign rs74867664 GRCh37 Chromosome 17, 44110795: 44110795
23 KANSL1 NM_001193466.1(KANSL1): c.2698G> A (p.Gly900Arg) single nucleotide variant Benign/Likely benign rs74867664 GRCh38 Chromosome 17, 46033429: 46033429
24 KANSL1 NM_001193466.1(KANSL1): c.2949C> T (p.Tyr983=) single nucleotide variant Benign rs146848167 GRCh37 Chromosome 17, 44109554: 44109554
25 KANSL1 NM_001193466.1(KANSL1): c.2949C> T (p.Tyr983=) single nucleotide variant Benign rs146848167 GRCh38 Chromosome 17, 46032188: 46032188
26 KANSL1 NM_001193466.1(KANSL1): c.773T> C (p.Leu258Ser) single nucleotide variant Benign/Likely benign rs145714368 GRCh37 Chromosome 17, 44248737: 44248737
27 KANSL1 NM_001193466.1(KANSL1): c.773T> C (p.Leu258Ser) single nucleotide variant Benign/Likely benign rs145714368 GRCh38 Chromosome 17, 46171371: 46171371
28 KANSL1 NM_001193466.1(KANSL1): c.3170A> G (p.Gln1057Arg) single nucleotide variant Likely benign rs201083879 GRCh37 Chromosome 17, 44108990: 44108990
29 KANSL1 NM_001193466.1(KANSL1): c.3170A> G (p.Gln1057Arg) single nucleotide variant Likely benign rs201083879 GRCh38 Chromosome 17, 46031624: 46031624
30 KANSL1 NM_001193466.1(KANSL1): c.3056G> A (p.Arg1019His) single nucleotide variant Uncertain significance rs781056926 GRCh38 Chromosome 17, 46032081: 46032081
31 KANSL1 NM_001193466.1(KANSL1): c.3056G> A (p.Arg1019His) single nucleotide variant Uncertain significance rs781056926 GRCh37 Chromosome 17, 44109447: 44109447
32 KANSL1 NM_001193466.1(KANSL1): c.2725-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs186818985 GRCh37 Chromosome 17, 44110565: 44110565
33 KANSL1 NM_001193466.1(KANSL1): c.2725-7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs186818985 GRCh38 Chromosome 17, 46033199: 46033199
34 KANSL1 NM_001193466.1(KANSL1): c.2718T> G (p.Asn906Lys) single nucleotide variant Likely benign rs139615350 GRCh38 Chromosome 17, 46033409: 46033409
35 KANSL1 NM_001193466.1(KANSL1): c.2718T> G (p.Asn906Lys) single nucleotide variant Likely benign rs139615350 GRCh37 Chromosome 17, 44110775: 44110775
36 KANSL1 NM_001193466.1(KANSL1): c.2713_2715delGAG (p.Glu905del) deletion Benign rs551968687 GRCh38 Chromosome 17, 46033412: 46033414
37 KANSL1 NM_001193466.1(KANSL1): c.2713_2715delGAG (p.Glu905del) deletion Benign rs551968687 GRCh37 Chromosome 17, 44110778: 44110780
38 KANSL1 NM_001193466.1(KANSL1): c.2414T> C (p.Met805Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201526313 GRCh37 Chromosome 17, 44116031: 44116031
39 KANSL1 NM_001193466.1(KANSL1): c.2414T> C (p.Met805Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201526313 GRCh38 Chromosome 17, 46038665: 46038665
40 KANSL1 NM_001193466.1(KANSL1): c.2331C> T (p.Pro777=) single nucleotide variant Benign/Likely benign rs139663254 GRCh38 Chromosome 17, 46039088: 46039088
41 KANSL1 NM_001193466.1(KANSL1): c.2331C> T (p.Pro777=) single nucleotide variant Benign/Likely benign rs139663254 GRCh37 Chromosome 17, 44116454: 44116454
42 KANSL1 NM_001193466.1(KANSL1): c.2159G> A (p.Arg720His) single nucleotide variant Benign/Likely benign rs148825937 GRCh37 Chromosome 17, 44117112: 44117112
43 KANSL1 NM_001193466.1(KANSL1): c.2159G> A (p.Arg720His) single nucleotide variant Benign/Likely benign rs148825937 GRCh38 Chromosome 17, 46039746: 46039746
44 KANSL1 NM_001193466.1(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 GRCh37 Chromosome 17, 44128062: 44128062
45 KANSL1 NM_001193466.1(KANSL1): c.1857G> T (p.Arg619=) single nucleotide variant Conflicting interpretations of pathogenicity rs191986791 GRCh38 Chromosome 17, 46050696: 46050696
46 KANSL1 NM_001193466.1(KANSL1): c.1625T> A (p.Leu542His) single nucleotide variant Conflicting interpretations of pathogenicity rs796052593 GRCh38 Chromosome 17, 46067576: 46067576
47 KANSL1 NM_001193466.1(KANSL1): c.1625T> A (p.Leu542His) single nucleotide variant Conflicting interpretations of pathogenicity rs796052593 GRCh37 Chromosome 17, 44144942: 44144942
48 KANSL1 NM_001193466.1(KANSL1): c.1423G> A (p.Ala475Thr) single nucleotide variant Benign/Likely benign rs547462953 GRCh37 Chromosome 17, 44171934: 44171934
49 KANSL1 NM_001193466.1(KANSL1): c.1423G> A (p.Ala475Thr) single nucleotide variant Benign/Likely benign rs547462953 GRCh38 Chromosome 17, 46094568: 46094568
50 KANSL1 NM_001193466.1(KANSL1): c.1285C> A (p.Pro429Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs142062936 GRCh37 Chromosome 17, 44248225: 44248225

Copy number variations for Koolen-De Vries Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 112052 17 37800000 41900000 Microdeletion 17q21.31 microdeletion syndrome
2 112054 17 37800000 41900000 Microdeletion CRHR1 17q21.31 microdeletion syndrome
3 112056 17 37800000 41900000 Microdeletion MAPT 17q21.31 microdeletion syndrome
4 112057 17 37800000 41900000 Microdeletion MAPT 17q21.31 microdeletion syndrome
5 112058 17 37800000 41900000 Microdeletion MAPT 17q21.31 microdeletion syndrome

Expression for Koolen-De Vries Syndrome

Search GEO for disease gene expression data for Koolen-De Vries Syndrome.

Pathways for Koolen-De Vries Syndrome

GO Terms for Koolen-De Vries Syndrome

Sources for Koolen-De Vries Syndrome

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