Stickler Syndrome, Type I disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

STL1 MCID: STC015 MIFTS: 40	Stickler Syndrome, Type I (STL1) Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Stickler Syndrome, Type I

MalaCards integrated aliases for Stickler Syndrome, Type I:

Name: Stickler Syndrome, Type I ⁵⁶ ¹³ ⁵⁴ ³⁹

Stickler Syndrome Type 1 ⁵⁸ ²⁹ ⁶

Stickler Syndrome, Type 1 ⁷⁴ ⁷¹

Stickler Syndrome 1 ¹² ⁷³

Stl1 ⁵⁶ ⁷³

Aom ⁵⁶ ⁷³

Arthroophthalmopathy, Hereditary Progressive; Aom ⁵⁶

Arthroophthalmopathy, Hereditary Progressive ⁵⁶

Arthro-Ophthalmopathy Hereditary Progressive ⁷³

Stickler Syndrome, Membranous Vitreous Type ⁵⁶

Stickler Syndrome Membranous Vitreous Type ⁷³

Stickler Syndrome, Vitreous Type 1 ⁵⁶

Stickler Syndrome Vitreous Type 1 ⁷³

Stickler Syndrome Type I ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁸

stickler syndrome type 1
Inheritance: Autosomal dominant;

OMIM:

⁵⁶

Inheritance:
autosomal dominant

HPO:

³¹

stickler syndrome, type i:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other congenital malformation syndromes with other skeletal changes

Orphanet: ⁵⁸

Rare eye diseases

Rare otorhinolaryngological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0080676

OMIM ⁵⁶ 108300

OMIM Phenotypic Series ⁵⁶ PS108300

MeSH ⁴³ D003240

MESH via Orphanet ⁴⁴ C537492

ICD10 via Orphanet ³³ Q87.5

UMLS via Orphanet ⁷² C2020284

Orphanet ⁵⁸ ORPHA90653

MedGen ⁴¹ C0265253 C2020284 CN032634

UMLS ⁷¹ C2020284

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Summaries for Stickler Syndrome, Type I

UniProtKB/Swiss-Prot : ⁷³ Stickler syndrome 1: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable.

MalaCards based summary : Stickler Syndrome, Type I, also known as stickler syndrome type 1, is related to stickler syndrome, type i, nonsyndromic ocular and otitis media. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, eye and tongue, and related phenotypes are cataract and skeletal dysplasia

Disease Ontology : ¹² A Stickler syndrome that has material basis in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

OMIM : ⁵⁶ Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting (cleft palate or bifid uvula), Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis (summary by Baker et al., 2011). (108300)

Wikipedia : ⁷⁴ Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic... more...

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Related Diseases for Stickler Syndrome, Type I

Diseases in the Stickler Syndrome family:

Stickler Syndrome, Type I	Stickler Syndrome, Type Ii
Stickler Syndrome, Type Iv	Stickler Syndrome, Type V
Autosomal Recessive Stickler Syndrome

Diseases related to Stickler Syndrome, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)

#	Related Disease	Score
1	stickler syndrome, type i, nonsyndromic ocular	12.5
2	otitis media	11.8
3	serous glue ear	11.4
4	vitreoretinal degeneration	11.4
5	abdominal obesity-metabolic syndrome quantitative trait locus 2	11.2
6	colorectal cancer	10.7
7	colitis	10.5
8	stickler syndrome	10.4
9	adenoma	10.4
10	haemophilus influenzae	10.4
11	adenocarcinoma	10.3
12	stickler syndrome, type ii	10.3
13	inflammatory bowel disease	10.2
14	colon adenocarcinoma	10.2
15	periodontal ehlers-danlos syndrome	10.2
16	cleft palate, isolated	10.1
17	spondyloepiphyseal dysplasia with congenital joint dislocations	10.1
18	cataract	10.1
19	hepatocellular carcinoma	10.0
20	body mass index quantitative trait locus 11	10.0
21	tubulin, beta	10.0
22	leukemia, acute myeloid	10.0
23	body mass index quantitative trait locus 9	10.0
24	body mass index quantitative trait locus 8	10.0
25	body mass index quantitative trait locus 4	10.0
26	body mass index quantitative trait locus 10	10.0
27	body mass index quantitative trait locus 7	10.0
28	body mass index quantitative trait locus 12	10.0
29	body mass index quantitative trait locus 14	10.0
30	body mass index quantitative trait locus 18	10.0
31	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.0
32	body mass index quantitative trait locus 19	10.0
33	body mass index quantitative trait locus 20	10.0
34	colorectal adenoma	10.0
35	mastoiditis	10.0
36	sensorineural hearing loss	10.0
37	cholesteatoma of middle ear	10.0
38	suppurative otitis media	10.0
39	facial paralysis	10.0
40	bipolar i disorder	10.0
41	chronic purulent otitis media	10.0
42	dermatitis	10.0
43	hyperglycemia	10.0
44	colonic disease	10.0
45	ulcerative colitis	10.0
46	rapidly involuting congenital hemangioma	10.0
47	treacher collins syndrome 1	10.0
48	marshall syndrome	10.0
49	pierre robin syndrome	10.0
50	ptosis	10.0

Graphical network of the top 20 diseases related to Stickler Syndrome, Type I:

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Symptoms & Phenotypes for Stickler Syndrome, Type I

Human phenotypes related to Stickler Syndrome, Type I:

⁵⁸ ³¹ (show all 43)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	cataract ⁵⁸ ³¹	occasional (7.5%)	Very frequent (99-80%)	HP:0000518
2	skeletal dysplasia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002652
3	short nose ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003196
4	myopia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000545
5	hypoplasia of the maxilla ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000327
6	retinal detachment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000541
7	long philtrum ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000343
8	abnormal vitreous humor morphology ³¹	hallmark (90%)		HP:0004327
9	sensorineural hearing impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000407
10	arthralgia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002829
11	cleft palate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000175
12	mitral valve prolapse ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001634
13	platyspondyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000926
14	joint hyperflexibility ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005692
15	proptosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000520
16	osteoarthritis ⁵⁸ ³¹	very rare (1%)	Frequent (79-30%)	HP:0002758
17	abnormality of vertebral epiphysis morphology ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100734
18	intellectual disability ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001249
19	visual loss ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000572
20	conductive hearing impairment ³¹	occasional (7.5%)		HP:0000405
21	scoliosis ³¹	very rare (1%)		HP:0002650
22	spondylolisthesis ³¹	very rare (1%)		HP:0003302
23	bifid uvula ³¹	very rare (1%)		HP:0000193
24	submucous cleft hard palate ³¹	very rare (1%)		HP:0000176
25	morbus scheuermann ³¹	very rare (1%)		HP:0010891
26	depressed nasal bridge ³¹			HP:0005280
27	kyphosis ³¹			HP:0002808
28	beaking of vertebral bodies ³¹			HP:0004568
29	anteverted nares ³¹			HP:0000463
30	blindness ³¹			HP:0000618
31	pectus excavatum ³¹			HP:0000767
32	arachnodactyly ³¹			HP:0001166
33	disproportionate tall stature ³¹			HP:0001519
34	glaucoma ³¹			HP:0000501
35	abnormality of epiphysis morphology ⁵⁸		Frequent (79-30%)
36	malar flattening ³¹			HP:0000272
37	abnormality of the vitreous humor ⁵⁸		Very frequent (99-80%)
38	midface retrusion ³¹			HP:0011800
39	pierre-robin sequence ³¹			HP:0000201
40	arthropathy ³¹			HP:0003040
41	spondyloepiphyseal dysplasia ³¹			HP:0002655
42	irregular femoral epiphysis ³¹			HP:0006361
43	membranous vitreous appearance ³¹			HP:0031153

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Nose:
depressed nasal bridge
anteverted nares

Head And Neck Eyes:
blindness
myopia
glaucoma
retinal detachment
occasional cataracts
more

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Skeletal Limbs:
arachnodactyly
arthropathy
flat, irregular femoral epiphyses

Head And Neck Ears:
sensorineural hearing loss
occasional conductive hearing loss

Growth Other:
marfanoid habitus

Skeletal Spine:
scoliosis
kyphosis
platyspondyly with anterior wedging

Head And Neck Mouth:
cleft palate
pierre-robin sequence

Cardiovascular Heart:
mitral valve prolapse

Head And Neck Face:
flat midface

Growth Height:
normal height

Skeletal:
mild spondyloepiphyseal dysplasia

Clinical features from OMIM:

108300

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Drugs & Therapeutics for Stickler Syndrome, Type I

Search Clinical Trials , NIH Clinical Center for Stickler Syndrome, Type I

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Genetic Tests for Stickler Syndrome, Type I

Genetic tests related to Stickler Syndrome, Type I:

#	Genetic test	Affiliating Genes
1	Stickler Syndrome Type 1 ²⁹	COL2A1

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Anatomical Context for Stickler Syndrome, Type I

MalaCards organs/tissues related to Stickler Syndrome, Type I:

⁴⁰

Bone, Eye, Tongue

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Publications for Stickler Syndrome, Type I

Articles related to Stickler Syndrome, Type I:

(show top 50) (show all 119)

#	Title	Authors	PMID	Year
1	A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. ⁵⁶ ⁶	Miyamoto Y...Ikegawa S	16189708	2005
2	Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. ⁶ ⁵⁶	Richards AJ...Snead MP	11007540	2000
3	Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. ⁵⁶ ⁶	Wilkin DJ...Cohn DH	10982970	2000
4	Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability. ⁵⁶ ⁶	Freddi S...Bateman JF	10706362	2000
5	A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred. ⁵⁶ ⁶	Williams CJ...Michels VV	8737653	1996
6	A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. ⁵⁶ ⁶	Ahmad NN...Prockop DJ	8434604	1993
7	Procollagen II gene mutation in Stickler syndrome. ⁶ ⁵⁶	Brown DM...Stone EM	1444917	1992
8	Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). ⁶ ⁵⁶	Ahmad NN...Prockop DJ	1677770	1991
9	HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY. ⁶ ⁵⁶	STICKLER GB...WARD LE	14299791	1965
10	Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ⁵⁶ ⁶¹	Olavarrieta L...Moreno-Pelayo MA	18177466	2008
11	Stickler syndrome: clinical characteristics and diagnostic criteria. ⁵⁶ ⁵⁴	Rose PS...Francomano CA	16152640	2005
12	Type II Collagen Disorders Overview ⁶	Gregersen PA...Savarirayan R	31021589	2019
13	Evaluation of the adolescent or adult with some features of Marfan syndrome. ⁶	Pyeritz RE...American College of Medical Genetics and Genomics	22237449	2012
14	A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. ⁵⁶	Baker S...Ala-Kokko L	21671392	2011
15	Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. ⁵⁶	Hoornaert KP...Mortier GR	20179744	2010
16	Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity. ⁵⁶	Ang A...Snead M	17318849	2007
17	High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. ⁵⁶	Richards AJ...Snead MP	16752401	2006
18	Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. ⁶	Go SL...Hoyng CB	12939326	2003
19	Prevalence of mitral valve prolapse in Stickler syndrome. ⁵⁶	Ahmad N...Snead MP	12503098	2003
20	The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. ⁵⁶	Liberfarb RM...Rubin BI	12544472	2003
21	Linkage analysis for prenatal diagnosis in a familial case of Stickler syndrome. ⁵⁶	Lisi V...Mottes M	12150217	2002
22	Clinical features of hereditary progressive arthro-ophthalmopathy (Stickler syndrome): a survey. ⁵⁶	Stickler GB...Houchin P	11388760	2001
23	Stickler Syndrome ⁶	Robin NH...Ala-Kokko L	20301479	2000
24	Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. ⁵⁶	Annunen S...Ala-Kokko L	10486316	1999
25	Clinical and Molecular genetics of Stickler syndrome. ⁵⁶	Snead MP...Yates JR	10353778	1999
26	Correlation of linkage data with phenotype in eight families with Stickler syndrome. ⁵⁶	Wilkin DJ...Cohn DH	9805127	1998
27	Marshall syndrome associated with a splicing defect at the COL11A1 locus. ⁵⁶	Griffith AJ...Warman ML	9529347	1998
28	Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. ⁶	Ahmad NN...Tasman WS	7487609	1995
29	A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. ⁶	Ritvaniemi P...Ala-Kokko L	8406454	1993
30	Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. ⁵⁶	Bonaventure J...Gilgenkrantz S	1358786	1992
31	Variability of Stickler syndrome. ⁵⁶	Zlotogora J...Merin S	1536174	1992
32	Genetic and clinical heterogeneity of Stickler syndrome. ⁵⁶	Vintiner GM...Malcolm S	1683158	1991
33	Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome. ⁵⁶	Priestley L...Sykes B	1977683	1990
34	Distinctive cataract in the Stickler syndrome. ⁵⁶	Seery CM...Cohen BZ	2378378	1990
35	Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. ⁵⁶	Knowlton RG...Prockop DJ	2573273	1989
36	Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. ⁶	Baldwin CT...Prockop DJ	2803268	1989
37	Stickler's syndrome. ⁵⁶	Temple IK	2918540	1989
38	The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. ⁵⁶	Francomano CA...Pyeritz RE	2896625	1987
39	Stickler's syndrome: a study of 12 families. ⁵⁶	Spallone A	3651362	1987
40	Prevalence of mitral-valve prolapse in the Stickler syndrome. ⁵⁶	Liberfarb RM...Goldblatt A	3728560	1986
41	The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identity. ⁵⁶	Winter RM...Hall CM	6650564	1983
42	The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome. ⁵⁶	Kelly TE...Tuck KB	7064999	1982
43	Hereditary vitreoretinal degeneration, cleft lip and palate, deafness, and skeletal dysplasia. ⁵⁶	Regenbogen L...Godel V	6966133	1980
44	Hereditary progressive arthro-ophthalmopathy of Stickler. ⁵⁶	Blair NP...Hirose T	507166	1979
45	The Stickler syndrome (hereditary arthro-ophthalmopathy). ⁵⁶	Say B...Barber N	409578	1977
46	The Stickler syndrome (hereditary arthro-ophthalmopathy). ⁵⁶	Gellis SS	1247001	1976
47	Stickler's syndrome (hereditary progressive arthro-ophthalmopathy). ⁵⁶	Popkin JS...Polomeno RC	4429933	1974
48	Hyalo-retinopathy in the clefting syndrome. ⁵⁶	Daniel R...Glasspool MG	4820990	1974
49	Ocular anomalies in malformation syndromes. ⁵⁶	Opitz JM	4199617	1972
50	The Stickler syndrome. ⁵⁶	Opitz JM...Spranger JW	4621768	1972

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Genes for Stickler Syndrome, Type I

Genes related to Stickler Syndrome, Type I (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1679.11	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ Novoseek inferred ⁵⁴ GeneCards inferred via : Summaries Variants (show sections)	16189708 1444917 14299791 (more) 11007540 1677770 10982970 7487609 20301479 2803268 12939326 22237449 10706362 8434604 31021589 8737653 8406454 16152640 18309337 16021188

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Variations for Stickler Syndrome, Type I

ClinVar genetic disease variations for Stickler Syndrome, Type I:

⁶ (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	COL2A1	NM_001844.5(COL2A1):c.3642del (p.Gly1215fs)	deletion	Pathogenic	635549		12:48369344-48369344	12:47975561-47975561
2	COL2A1	NM_001844.5(COL2A1):c.491del (p.Pro164fs)	deletion	Pathogenic	689620		12:48391429-48391429	12:47997646-47997646
3	COL2A1	NM_001844.5(COL2A1):c.2908_2909dup (p.Pro971fs)	duplication	Pathogenic	692014		12:48372167-48372168	12:47978384-47978385
4	COL2A1	NM_001844.5(COL2A1):c.3598-1G>A	SNV	Pathogenic	807558		12:48369389-48369389	12:47975606-47975606
5	COL2A1	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	SNV	Pathogenic	17366	rs121912874	12:48372112-48372112	12:47978329-47978329
6	COL2A1	NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	SNV	Pathogenic	17368	rs121912876	12:48387824-48387824	12:47994041-47994041
7	COL2A1	COL2A1, 1-BP DEL, EX50	deletion	Pathogenic	17373
8	COL2A1	COL2A1, IVS17, A-G, -2	SNV	Pathogenic	17374
9	COL2A1	NM_001844.5(COL2A1):c.1680+1G>A	SNV	Pathogenic	17382		12:48379510-48379510	12:47985727-47985727
10	COL2A1	NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)	SNV	Pathogenic	17384	rs121912885	12:48377218-48377218	12:47983435-47983435
11	COL2A1	NM_001844.5(COL2A1):c.709-2A>G	SNV	Pathogenic	17398		12:48389093-48389093	12:47995310-47995310
12	COL2A1	NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	SNV	Pathogenic	17395	rs121912893	12:48377504-48377504	12:47983721-47983721
13	COL2A1	NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)	SNV	Pathogenic	197503	rs748459670	12:48371798-48371798	12:47978015-47978015
14	COL2A1	NM_001844.5(COL2A1):c.3138del (p.Gly1047fs)	deletion	Pathogenic	17365	rs121912873	12:48371410-48371410	12:47977627-47977627
15	COL2A1	NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)	SNV	Pathogenic	17360	rs121912869	12:48389687-48389687	12:47995904-47995904
16	COL2A1	COL2A1, 1-BP DEL, EX40	deletion	Pathogenic	17358
17	COL2A1	NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)	SNV	Pathogenic	17355	rs121912866	12:48372481-48372481	12:47978698-47978698
18	COL2A1	NM_001844.5(COL2A1):c.2679+1G>A	SNV	Pathogenic	802843		12:48373791-48373791	12:47980008-47980008
19	COL2A1	NM_001844.5(COL2A1):c.578_579GC[1] (p.Ala194fs)	short repeat	Pathogenic	623179		12:48390359-48390360	12:47996576-47996577
20	COL2A1	NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)	SNV	Pathogenic	598754	rs1565679039	12:48377182-48377182	12:47983399-47983399
21	COL2A1	NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)	SNV	Pathogenic	547252	rs1025202963	12:48381438-48381438	12:47987655-47987655
22	COL2A1	NM_001844.5(COL2A1):c.2381del (p.Pro794fs)	deletion	Pathogenic	547258	rs1555166218	12:48375587-48375587	12:47981804-47981804
23	COL2A1	NM_001844.5(COL2A1):c.3166-1G>A	SNV	Pathogenic	547260	rs1555165204	12:48371211-48371211	12:47977428-47977428
24	COL2A1	NM_001844.5(COL2A1):c.3731del (p.Ala1244fs)	deletion	Pathogenic	547263	rs1555164735	12:48369255-48369255	12:47975472-47975472
25	COL2A1	NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)	SNV	Pathogenic	449397	rs1555166555	12:48376723-48376723	12:47982940-47982940
26	COL2A1	NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)	SNV	Pathogenic	430186	rs1131691822	12:48389546-48389546	12:47995763-47995763
27	COL2A1	NM_001844.5(COL2A1):c.258C>A (p.Cys86Ter)	SNV	Pathogenic	195148	rs794727261	12:48393736-48393736	12:47999953-47999953
28	COL2A1	NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	SNV	Pathogenic/Likely pathogenic	17383	rs121912884	12:48379358-48379358	12:47985575-47985575
29	COL2A1	NM_001844.5(COL2A1):c.609+4del	deletion	Likely pathogenic	520405	rs1555168965	12:48390327-48390327	12:47996544-47996544
30	COL2A1	NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs)	deletion	Likely pathogenic	547250	rs1555168309	12:48386713-48386713	12:47992930-47992930
31	COL2A1	NM_001844.5(COL2A1):c.2049+1G>A	SNV	Likely pathogenic	547254	rs1555166658	12:48377167-48377167	12:47983384-47983384
32	COL2A1	NM_001844.5(COL2A1):c.2355+2del	deletion	Likely pathogenic	547257	rs1555166295	12:48375888-48375888	12:47982105-47982105
33	COL2A1	NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)	SNV	Likely pathogenic	547245	rs1246771678	12:48393838-48393838	12:48000055-48000055
34	COL2A1	NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)	SNV	Likely pathogenic	802841		12:48371891-48371891	12:47978108-47978108
35	COL2A1	NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)	SNV	Likely pathogenic	802846		12:48377492-48377492	12:47983709-47983709
36	COL2A1	NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)	SNV	Likely pathogenic	802844		12:48374366-48374366	12:47980583-47980583
37	COL2A1	NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	SNV	Likely pathogenic	286275	rs886043356	12:48370901-48370901	12:47977118-47977118
38	COL2A1	NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)	SNV	Conflicting interpretations of pathogenicity	252593	rs141423593	12:48374388-48374388	12:47980605-47980605
39	COL2A1	NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)	SNV	Conflicting interpretations of pathogenicity	881739		12:48381477-48381477	12:47987694-47987694
40	COL2A1	NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)	SNV	Conflicting interpretations of pathogenicity	881132		12:48369838-48369838	12:47976055-47976055
41	COL2A1	NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)	SNV	Conflicting interpretations of pathogenicity	883499		12:48369323-48369323	12:47975540-47975540
42	COL2A1	NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	SNV	Conflicting interpretations of pathogenicity	883498		12:48369273-48369273	12:47975490-47975490
43	COL2A1	NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)	SNV	Conflicting interpretations of pathogenicity	881094		12:48368096-48368096	12:47974313-47974313
44	COL2A1	NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)	SNV	Conflicting interpretations of pathogenicity	882673		12:48367304-48367304	12:47973521-47973521
45	COL2A1	NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)	SNV	Conflicting interpretations of pathogenicity	881508		12:48367206-48367206	12:47973423-47973423
46	COL2A1	NM_001844.5(COL2A1):c.2410-13T>G	SNV	Conflicting interpretations of pathogenicity	882808		12:48375192-48375192	12:47981409-47981409
47	COL2A1	NM_001844.5(COL2A1):c.4074+12G>T	SNV	Conflicting interpretations of pathogenicity	881561		12:48368446-48368446	12:47974663-47974663
48	COL2A1	NM_001844.5(COL2A1):c.2680-9C>T	SNV	Conflicting interpretations of pathogenicity	197431	rs369022247	12:48373356-48373356	12:47979573-47979573
49	COL2A1	NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)	SNV	Conflicting interpretations of pathogenicity	93790	rs201646745	12:48368468-48368468	12:47974685-47974685
50	COL2A1	NM_001844.5(COL2A1):c.2949C>T (p.Val983=)	SNV	Conflicting interpretations of pathogenicity	258231	rs201719788	12:48372128-48372128	12:47978345-47978345

UniProtKB/Swiss-Prot genetic disease variations for Stickler Syndrome, Type I:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	COL2A1	p.Arg904Cys	VAR_017645	rs121912882
2	COL2A1	p.Arg565Cys	VAR_023927	rs121912884
3	COL2A1	p.Gly240Asp	VAR_063892
4	COL2A1	p.Gly270Arg	VAR_063893
5	COL2A1	p.Gly282Asp	VAR_063894
6	COL2A1	p.Gly453Ala	VAR_063895	rs794727339
7	COL2A1	p.Gly501Arg	VAR_063896
8	COL2A1	p.Gly1158Ala	VAR_063898

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Expression for Stickler Syndrome, Type I

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Stickler Syndrome, Type I (STL1)

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