SCKL1
MCID: SCK009
MIFTS: 48

Seckel Syndrome 1 (SCKL1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Seckel Syndrome 1

MalaCards integrated aliases for Seckel Syndrome 1:

Name: Seckel Syndrome 1 57 12 72 29 13 6 15
Microcephalic Primordial Dwarfism I 57 12 72
Nanocephalic Dwarfism 57 72 6
Sckl1 57 12 72
Seckel-Type Dwarfism 57 72
Bird-Headed Dwarfism 57 72
Seckel Syndrome, Type 1 39
Seckel Syndrome 70
Sckl 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
half of cases show retarded head circumference equal to height retardation
other half show head circumference more retarded than height


HPO:

31
seckel syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Seckel Syndrome 1

UniProtKB/Swiss-Prot : 72 Seckel syndrome 1: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.

MalaCards based summary : Seckel Syndrome 1, also known as microcephalic primordial dwarfism i, is related to seckel syndrome 8 and seckel syndrome 2, and has symptoms including seizures An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. Affiliated tissues include bone and myeloid, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.

OMIM® : 57 Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). (210600) (Updated 05-Apr-2021)

Related Diseases for Seckel Syndrome 1

Diseases in the Seckel Syndrome family:

Seckel Syndrome 1 Seckel Syndrome 2
Seckel Syndrome 4 Seckel Syndrome 5
Seckel Syndrome 6 Seckel Syndrome 7
Seckel Syndrome 8 Seckel Syndrome 9
Seckel Syndrome 10

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

(show all 39)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 8 31.6 RBBP8 CEP152
2 seckel syndrome 2 29.6 RFC2 RBBP8 PCNT MNAT1 CNTLN CEP152
3 seckel syndrome 29.6 RFC2 RBBP8 PCNT NHEJ1 CNTLN CEP152
4 microcephaly 29.5 RBBP8 PCNT NHEJ1 CEP152 CENPJ ATR
5 isolated growth hormone deficiency, type ia 29.5 RBBP8 PCNT CNTLN CEP152 CENPJ ATR
6 microcephalic primordial dwarfism, montreal type 11.6
7 bangstad syndrome 11.5
8 seckel like syndrome majoor-krakauer type 11.3
9 microcephaly 8, primary, autosomal recessive 10.2 CEP152 CENPJ
10 microcephaly 14, primary, autosomal recessive 10.2 CEP152 CENPJ
11 microcephaly 10, primary, autosomal recessive 10.2 CEP152 CENPJ
12 microcephaly 17, primary, autosomal recessive 10.2 CEP152 CENPJ
13 microcephalic osteodysplastic primordial dwarfism, type i 10.2
14 dwarfism 10.2
15 microcephaly 12, primary, autosomal recessive 10.2 CEP152 CENPJ
16 microcephaly 11, primary, autosomal recessive 10.2 CEP152 CENPJ
17 microcephaly 9, primary, autosomal recessive 10.2 CEP152 CENPJ
18 microcephaly 3, primary, autosomal recessive 10.2 CEP152 CENPJ
19 microcephaly 7, primary, autosomal recessive 10.2 CEP152 CENPJ
20 microcephaly 4, primary, autosomal recessive 10.2 CEP152 CENPJ
21 microcephaly 18, primary, autosomal dominant 10.1 CEP152 CENPJ
22 microcephalic osteodysplastic primordial dwarfism, type iii 10.1
23 aplastic anemia 10.1
24 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
25 craniosynostosis 10.1
26 microcephaly 5, primary, autosomal recessive 10.1 CEP152 CENPJ
27 microcephaly 1, primary, autosomal recessive 10.1 CEP152 CENPJ
28 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 10.0 CNTLN CEP152 CENPJ
29 microcephaly 6, primary, autosomal recessive 10.0 CNTLN CEP152 CENPJ
30 mosaic variegated aneuploidy syndrome 10.0 PCNT CNTLN CEP152
31 isolated growth hormone deficiency 9.9 PCNT CNTLN CEP152 CENPJ
32 microcephalic osteodysplastic primordial dwarfism, type ii 9.9 PCNT CNTLN CEP152 CENPJ
33 physical disorder 9.8 PCNT CNTLN CEP152 CENPJ
34 seckel syndrome 5 9.8 RBBP8 PCNT CEP152 CENPJ
35 congenital nervous system abnormality 9.6 PCNT NHEJ1 CNTLN CEP152 CENPJ
36 joubert syndrome 1 9.6 PCNT CNTLN CEP152 CENPJ
37 primary autosomal recessive microcephaly 9.6 RBBP8 PCNT CNTLN CEP152 CENPJ
38 fanconi anemia, complementation group a 9.3 RBBP8 NHEJ1 CNTLN ATR
39 seckel syndrome 4 9.1 RFC2 RBBP8 PCNT CNTLN CEP152 CENPJ

Graphical network of the top 20 diseases related to Seckel Syndrome 1:



Diseases related to Seckel Syndrome 1

Symptoms & Phenotypes for Seckel Syndrome 1

Human phenotypes related to Seckel Syndrome 1:

31 (show all 48)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 scoliosis 31 HP:0002650
3 high palate 31 HP:0000218
4 delayed skeletal maturation 31 HP:0002750
5 dental malocclusion 31 HP:0000689
6 pes planus 31 HP:0001763
7 microcephaly 31 HP:0000252
8 strabismus 31 HP:0000486
9 cleft palate 31 HP:0000175
10 cryptorchidism 31 HP:0000028
11 intrauterine growth retardation 31 HP:0001511
12 postnatal growth retardation 31 HP:0008897
13 micrognathia 31 HP:0000347
14 low-set ears 31 HP:0000369
15 elbow flexion contracture 31 HP:0002987
16 dental crowding 31 HP:0000678
17 downslanted palpebral fissures 31 HP:0000494
18 sandal gap 31 HP:0001852
19 clinodactyly of the 5th finger 31 HP:0004209
20 facial asymmetry 31 HP:0000324
21 talipes 31 HP:0001883
22 hip dislocation 31 HP:0002827
23 hypospadias 31 HP:0000047
24 blepharophimosis 31 HP:0000581
25 convex nasal ridge 31 HP:0000444
26 pachygyria 31 HP:0001302
27 sloping forehead 31 HP:0000340
28 single transverse palmar crease 31 HP:0000954
29 prominent nose 31 HP:0000448
30 cerebellar vermis hypoplasia 31 HP:0001320
31 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
32 dislocated radial head 31 HP:0003083
33 hyperactivity 31 HP:0000752
34 pancytopenia 31 HP:0001876
35 11 pairs of ribs 31 HP:0000878
36 abnormality of the pinna 31 HP:0000377
37 hypoplasia of dental enamel 31 HP:0006297
38 selective tooth agenesis 31 HP:0001592
39 proportionate short stature 31 HP:0003508
40 hypoplasia of proximal radius 31 HP:0006434
41 clitoral hypertrophy 31 HP:0008665
42 abnormally large globe 31 HP:0001090
43 abnormal finger flexion creases 31 HP:0006143
44 small anterior fontanelle 31 HP:0000237
45 large basal ganglia 31 HP:0007048
46 seizure 31 HP:0001250
47 hypoplasia of proximal fibula 31 HP:0006442
48 ivory epiphyses 31 HP:0010583

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
pachygyria
large basal ganglia
mental retardation
arachnoidal cysts
more
Skeletal Feet:
pes planus
talipes
gap between first and second toes

Head And Neck Mouth:
cleft palate
high-arched palate

Head And Neck Face:
micrognathia
facial asymmetry
sloping forehead

Head And Neck Teeth:
dental crowding
selective tooth agenesis
enamel hypoplasia
class ii malocclusion

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Nose:
prominent nose
beaked nose

Hematology:
pancytopenia
increased sister chromatid exchange

Skeletal Hands:
abnormal finger flexion creases
fifth finger clinodactyly
transverse palmar creases
ivory epiphyses (phalanges)
cone-shaped epiphyses (phalanges)

Skeletal:
delayed bone age

Growth Height:
short stature, proportionate

Head And Neck Head:
microcephaly, severe
small anterior fontanel

Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
blepharophimosis
downslanting palpebral fissures
relatively large eyes

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
elbow flexion contracture
hypoplasia of proximal radius
hypoplasia of proximal fibula
radial head dislocation
aberrant patellae

Skeletal Pelvis:
hip dislocation

Genitourinary External Genitalia Female:
clitoromegaly

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs

Skin Nails Hair Skin:
abnormal finger flexion creases
transverse palmar creases

Growth Other:
prenatal growth retardation
postnatal growth retardation (-7 s.d.)

Growth Weight:
average birth weight 1540g

Head And Neck Ears:
low-set, malformed ears
absence of earlobe

Clinical features from OMIM®:

210600 (Updated 05-Apr-2021)

UMLS symptoms related to Seckel Syndrome 1:


seizures

GenomeRNAi Phenotypes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.65 RBBP8
2 Decreased homologous recombination repair frequency GR00151-A-2 9.65 RBBP8
3 Decreased homologous recombination repair frequency GR00236-A-1 9.65 RBBP8 RFC2
4 Decreased homologous recombination repair frequency GR00236-A-2 9.65 ATR RBBP8 RFC2
5 Decreased homologous recombination repair frequency GR00236-A-3 9.65 ATR RBBP8 RFC2
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.1 ATR
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 ATR MNAT1
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 ATR RBBP8 RFC2

Drugs & Therapeutics for Seckel Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII). Completed NCT03139903

Search NIH Clinical Center for Seckel Syndrome 1

Genetic Tests for Seckel Syndrome 1

Genetic tests related to Seckel Syndrome 1:

# Genetic test Affiliating Genes
1 Seckel Syndrome 1 29 ATR

Anatomical Context for Seckel Syndrome 1

MalaCards organs/tissues related to Seckel Syndrome 1:

40
Bone, Myeloid

Publications for Seckel Syndrome 1

Articles related to Seckel Syndrome 1:

(show all 28)
# Title Authors PMID Year
1
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. 57 6
23111928 2013
2
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. 57 6
23144622 2012
3
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. 57 6
12640452 2003
4
Is the novel SCKL3 at 14q23 the predominant Seckel locus? 57 61
14571270 2003
5
A case of Seckel syndrome with Tetralogy of Fallot. 57
20420029 2010
6
A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging. 57
19620979 2009
7
Clinical and genetic heterogeneity of Seckel syndrome. 57
12376940 2002
8
ATR and ATRIP: partners in checkpoint signaling. 6
11721054 2001
9
Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. 57
10889046 2000
10
ATR disruption leads to chromosomal fragmentation and early embryonic lethality. 6
10691732 2000
11
Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. 57
10232749 1999
12
Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. 57
9128935 1997
13
Acute myeloid leukaemia in a patient with Seckel syndrome. 57
8182723 1994
14
Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. 57
8358044 1993
15
Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? 57
3115102 1987
16
Seckel syndrome: an overdiagnosed syndrome. 57
4040172 1985
17
Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. 57
7046443 1982
18
Microcephalic dwarfism in sisters. 57
4214170 1974
19
Familial bird-headed dwarfism (Seckel's syndrome). 57
4714590 1973
20
Seckel's bird-headed dwarfism. 57
4378248 1967
21
Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies. 57
6022184 1967
22
Low birth weight dwarfism. 57
13869653 1961
23
The Seckel syndrome: A case observed in the pediatric department of the University Hospital Center Sourou Sanou (Burkina Faso). 61
32308969 2020
24
CtIP Mutations Cause Seckel and Jawad Syndromes. 61
21998596 2011
25
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301772 2009
26
Mice hypomorphic for Atr have increased DNA damage and abnormal checkpoint response. 61
19504344 2009
27
Chromosomal instability at common fragile sites in Seckel syndrome. 61
15309689 2004
28
A new Seckel-like syndrome of primordial dwarfism. 61
8862620 1996

Variations for Seckel Syndrome 1

ClinVar genetic disease variations for Seckel Syndrome 1:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATR NM_001184.4(ATR):c.2022A>G (p.Gly674=) SNV Pathogenic 8307 rs587776690 GRCh37: 3:142275281-142275281
GRCh38: 3:142556439-142556439
2 ATR NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr) SNV Pathogenic 41901 rs387907327 GRCh37: 3:142215958-142215958
GRCh38: 3:142497116-142497116
3 ATR NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) SNV Pathogenic 156536 rs587777851 GRCh37: 3:142259850-142259850
GRCh38: 3:142541008-142541008
4 ATR NM_001184.4(ATR):c.6897+464C>G SNV Pathogenic 156537 rs587777852 GRCh37: 3:142184702-142184702
GRCh38: 3:142465860-142465860
5 ATR NM_001184.4(ATR):c.4641+1G>T SNV Pathogenic 210488 rs797045403 GRCh37: 3:142232342-142232342
GRCh38: 3:142513500-142513500
6 ATR NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) SNV Pathogenic 977841 GRCh37: 3:142268449-142268449
GRCh38: 3:142549607-142549607
7 ATR NM_001184.4(ATR):c.7273C>T (p.Arg2425Ter) SNV Likely pathogenic 930484 GRCh37: 3:142178145-142178145
GRCh38: 3:142459303-142459303
8 ATR NM_001184.4(ATR):c.5196+1G>A SNV Likely pathogenic 434454 rs1553760567 GRCh37: 3:142223980-142223980
GRCh38: 3:142505138-142505138
9 CEP152 NM_001194998.2(CEP152):c.314G>A (p.Trp105Ter) SNV Likely pathogenic 517617 rs1342429887 GRCh37: 15:49089724-49089724
GRCh38: 15:48797527-48797527
10 ATR NM_001184.4(ATR):c.4995G>T (p.Lys1665Asn) SNV Likely pathogenic 559542 rs1553761113 GRCh37: 3:142226809-142226809
GRCh38: 3:142507967-142507967
11 ATR NM_001184.4(ATR):c.151+4A>G SNV Likely pathogenic 559543 rs1481733213 GRCh37: 3:142286901-142286901
GRCh38: 3:142568059-142568059
12 ATR NM_001184.4(ATR):c.2688G>A (p.Leu896=) SNV Conflicting interpretations of pathogenicity 157972 rs117926957 GRCh37: 3:142272186-142272186
GRCh38: 3:142553344-142553344
13 ATR NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) SNV Conflicting interpretations of pathogenicity 157970 rs77208665 GRCh37: 3:142274770-142274770
GRCh38: 3:142555928-142555928
14 ATR NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) SNV Uncertain significance 157985 rs148064542 GRCh37: 3:142238542-142238542
GRCh38: 3:142519700-142519700
15 ATR NM_001184.4(ATR):c.5572T>C (p.Cys1858Arg) SNV Uncertain significance 343600 rs367898142 GRCh37: 3:142216021-142216021
GRCh38: 3:142497179-142497179
16 ATR NM_001184.4(ATR):c.2226T>C (p.Cys742=) SNV Uncertain significance 343616 rs147895945 GRCh37: 3:142274834-142274834
GRCh38: 3:142555992-142555992
17 ATR NM_001184.4(ATR):c.6226C>G (p.Leu2076Val) SNV Uncertain significance 343587 rs372864251 GRCh37: 3:142189021-142189021
GRCh38: 3:142470179-142470179
18 ATR NM_001184.4(ATR):c.7349+2T>C SNV Uncertain significance 805997 GRCh37: 3:142178067-142178067
GRCh38: 3:142459225-142459225
19 ATR NM_001184.4(ATR):c.6023G>A (p.Arg2008Gln) SNV Uncertain significance 901057 GRCh37: 3:142212029-142212029
GRCh38: 3:142493187-142493187
20 ATR NM_001184.4(ATR):c.1439G>T (p.Ser480Ile) SNV Uncertain significance 901183 GRCh37: 3:142279207-142279207
GRCh38: 3:142560365-142560365
21 ATR NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) SNV Uncertain significance 158001 rs587783338 GRCh37: 3:142184019-142184019
GRCh38: 3:142465177-142465177
22 ATR NM_001184.4(ATR):c.59+4G>A SNV Uncertain significance 343630 rs758046042 GRCh37: 3:142297484-142297484
GRCh38: 3:142578642-142578642
23 ATR NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) SNV Uncertain significance 425314 rs201492267 GRCh37: 3:142231108-142231108
GRCh38: 3:142512266-142512266
24 ATR NM_001184.4(ATR):c.7864T>C (p.Tyr2622His) SNV Uncertain significance 899824 GRCh37: 3:142168342-142168342
GRCh38: 3:142449500-142449500
25 ATR NM_001184.4(ATR):c.4592A>G (p.His1531Arg) SNV Uncertain significance 903547 GRCh37: 3:142232392-142232392
GRCh38: 3:142513550-142513550
26 ATR NM_001184.4(ATR):c.1350-3T>C SNV Uncertain significance 157964 rs587783323 GRCh37: 3:142279299-142279299
GRCh38: 3:142560457-142560457
27 ATR NM_001184.4(ATR):c.2653G>A (p.Val885Ile) SNV Uncertain significance 343613 rs141606250 GRCh37: 3:142272221-142272221
GRCh38: 3:142553379-142553379
28 ATR NM_001184.4(ATR):c.1318C>T (p.Pro440Ser) SNV Uncertain significance 343619 rs535140939 GRCh37: 3:142280116-142280116
GRCh38: 3:142561274-142561274
29 ATR NM_001184.4(ATR):c.4490A>G (p.Tyr1497Cys) SNV Uncertain significance 903548 GRCh37: 3:142234250-142234250
GRCh38: 3:142515408-142515408
30 ATR NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) SNV Uncertain significance 157977 rs149008479 GRCh37: 3:142261533-142261533
GRCh38: 3:142542691-142542691
31 ATR NM_001184.4(ATR):c.7817G>A (p.Arg2606Gln) SNV Uncertain significance 899825 GRCh37: 3:142168389-142168389
GRCh38: 3:142449547-142449547
32 ATR NM_001184.4(ATR):c.1904G>A (p.Arg635Gln) SNV Uncertain significance 900024 GRCh37: 3:142275399-142275399
GRCh38: 3:142556557-142556557
33 CENPJ NM_018451.5(CENPJ):c.419A>C (p.Asp140Ala) SNV Uncertain significance 311632 rs201531824 GRCh37: 13:25486745-25486745
GRCh38: 13:24912607-24912607
34 ATR NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) SNV Uncertain significance 343612 rs141783863 GRCh37: 3:142272098-142272098
GRCh38: 3:142553256-142553256
35 ATR NM_001184.4(ATR):c.3241C>T (p.Leu1081=) SNV Uncertain significance 343611 rs139173669 GRCh37: 3:142266683-142266683
GRCh38: 3:142547841-142547841
36 ATR NM_001184.4(ATR):c.3945+2dup Duplication Uncertain significance 343608 rs537031994 GRCh37: 3:142253919-142253920
GRCh38: 3:142535077-142535078
37 ATR NM_001184.4(ATR):c.3642T>C (p.His1214=) SNV Uncertain significance 343609 rs139078985 GRCh37: 3:142257407-142257407
GRCh38: 3:142538565-142538565
38 ATR NM_001184.4(ATR):c.-29_-9delinsT Indel Uncertain significance 343631 rs1577732214 GRCh37: 3:142297555-142297575
GRCh38: 3:142578713-142578733
39 CENPJ NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met) SNV Uncertain significance 30783 rs144938364 GRCh37: 13:25479714-25479714
GRCh38: 13:24905576-24905576
40 ATR NM_001184.4(ATR):c.7408A>G (p.Ile2470Val) SNV Uncertain significance 931291 GRCh37: 3:142177895-142177895
GRCh38: 3:142459053-142459053
41 ATR NM_001184.4(ATR):c.7399G>A (p.Val2467Ile) SNV Uncertain significance 931877 GRCh37: 3:142177904-142177904
GRCh38: 3:142459062-142459062
42 ATR NM_001184.4(ATR):c.1411G>C (p.Glu471Gln) SNV Uncertain significance 800229 rs371350410 GRCh37: 3:142279235-142279235
GRCh38: 3:142560393-142560393
43 ATR NM_001184.4(ATR):c.4153-21dup Duplication Uncertain significance 195738 rs112116713 GRCh37: 3:142241692-142241693
GRCh38: 3:142522850-142522851
44 ATR NM_001184.4(ATR):c.6675G>T (p.Leu2225Phe) SNV Uncertain significance 989275 GRCh37: 3:142186788-142186788
GRCh38: 3:142467946-142467946
45 ATR NM_001184.4(ATR):c.4677C>T (p.Asp1559=) SNV Uncertain significance 210489 rs112726878 GRCh37: 3:142231277-142231277
GRCh38: 3:142512435-142512435
46 ATR NM_001184.4(ATR):c.6595A>G (p.Asn2199Asp) SNV Uncertain significance 901548 GRCh37: 3:142186868-142186868
GRCh38: 3:142468026-142468026
47 ATR NM_001184.4(ATR):c.5286C>G (p.Asn1762Lys) SNV Uncertain significance 901605 GRCh37: 3:142222206-142222206
GRCh38: 3:142503364-142503364
48 ATR NM_001184.4(ATR):c.6G>T (p.Gly2=) SNV Uncertain significance 900094 GRCh37: 3:142297541-142297541
GRCh38: 3:142578699-142578699
49 ATR NM_001184.4(ATR):c.7041+8G>A SNV Uncertain significance 434449 rs201106004 GRCh37: 3:142183931-142183931
GRCh38: 3:142465089-142465089
50 ATR NM_001184.4(ATR):c.5971C>A (p.Pro1991Thr) SNV Uncertain significance 901058 GRCh37: 3:142212081-142212081
GRCh38: 3:142493239-142493239

Expression for Seckel Syndrome 1

Search GEO for disease gene expression data for Seckel Syndrome 1.

Pathways for Seckel Syndrome 1

GO Terms for Seckel Syndrome 1

Cellular components related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.76 RFC2 RBBP8 NHEJ1 MNAT1 CNTLN CEP152
2 centrosome GO:0005813 9.26 PCNT CNTLN CEP152 CENPJ
3 centriole GO:0005814 8.92 PCNT CNTLN CEP152 CENPJ

Biological processes related to Seckel Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.58 RFC2 RBBP8 ATR
2 regulation of signal transduction by p53 class mediator GO:1901796 9.5 RFC2 RBBP8 ATR
3 ciliary basal body-plasma membrane docking GO:0097711 9.43 PCNT CEP152 CENPJ
4 centriole replication GO:0007099 9.37 CEP152 CENPJ
5 DNA repair GO:0006281 9.35 RFC2 RBBP8 NHEJ1 MNAT1 ATR
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.33 PCNT CEP152 CENPJ
7 G2/M transition of mitotic cell cycle GO:0000086 8.92 PCNT MNAT1 CEP152 CENPJ

Sources for Seckel Syndrome 1

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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