GenTIGS

Lists of Rare Genetic Disorders

Arthrogryposis Multiplex Congenita Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Neuromuscular disorders category

Reported Pathogenic variants

Candidate Gene Information

S.No.	Name/GeneID	Description	Cytogentic Band	Gene Location on genomic DNA	Gene Length	Exons	Details	Gene Cross-References
1	SYNE1/23345	spectrin repeat containing nuclear envelope protein 1	6q25.2	Chr6, NC_000006.12 (152121687..152637362, complement)	515676 nt	153	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
2	NEB/4703	nebulin	2q23.3	Chr2, NC_000002.12 (151485339..151734476, complement)	249138 nt	183	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	ADGRG6/57211	adhesion G protein-coupled receptor G6	6q24.2	Chr6, NC_000006.12 (142302007..142446261)	144255 nt	28	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	TNNI2/7136	troponin I2, fast skeletal type	11p15.5	Chr11, NC_000011.10 (1838981..1841678)	2698 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	TNNT3/7140	troponin T3, fast skeletal type	11p15.5	Chr11, NC_000011.10 (1919552..1938702)	19151 nt	21	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	TPM2/7169	tropomyosin 2	9p13.3	Chr9, NC_000009.12 (35681993..35690056, complement)	8064 nt	11	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	MYH3/4621	myosin heavy chain 3	17p13.1	Chr17, NC_000017.11 (10628532..10678417, complement)	49886 nt	43	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	LGI4/163175	leucine rich repeat LGI family member 4	19q13.12	Chr19, NC_000019.10 (35124513..35135059, complement)	10547 nt	11	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
9	RYR1/6261	ryanodine receptor 1	19q13.2	Chr19, NC_000019.10 (38433691..38587564)	153874 nt	106	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
10	ERGIC1/57222	endoplasmic reticulum-golgi intermediate compartment 1	5q35.1	Chr5, NC_000005.10 (172834251..172952683)	118433 nt	15	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
11	VPS13D/55187	vacuolar protein sorting 13 homolog D	1p36.22	Chr1, NC_000001.11 (12230030..12512047)	282018 nt	70	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
12	ACTA1/58	actin alpha 1, skeletal muscle	1q42.13	Chr1, NC_000001.11 (229431245..229434094, complement)	2850 nt	7	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
13	CHRND/1144	cholinergic receptor nicotinic delta subunit	2q37.1	Chr2, NC_000002.12 (232526160..232536664)	10505 nt	12	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
14	CHRNG/1146	cholinergic receptor nicotinic gamma subunit	2q37.1	Chr2, NC_000002.12 (232539692..232548115)	8424 nt	12	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
15	BLTP1/84162	bridge-like lipid transfer protein family member 1	4q27	Chr4, NC_000004.12 (122152331..122362752)	210422 nt	96	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
16	ALDH5A1/7915	aldehyde dehydrogenase 5 family member A1	6p22.3	Chr6, NC_000006.12 (24494969..24537207)	42239 nt	11	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
17	ASAH1/427	N-acylsphingosine amidohydrolase 1	8p22	Chr8, NC_000008.11 (18055992..18084961, complement)	28970 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
18	RAPSN/5913	receptor associated protein of the synapse	11p11.2	Chr11, NC_000011.10 (47437764..47449136, complement)	11373 nt	8	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
19	SCN8A/6334	sodium voltage-gated channel alpha subunit 8	12q13.13	Chr12, NC_000012.12 (51591233..51812864)	221632 nt	28	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
20	NALCN/259232	sodium leak channel, non-selective	13q33.1	Chr13, NC_000013.11 (101053776..101417179, complement)	363404 nt	48	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
21	DYNC1H1/1778	dynein cytoplasmic 1 heavy chain 1	14q32.31	Chr14, NC_000014.9 (101964573..102056443)	91871 nt	78	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
22	ADSS1/122622	adenylosuccinate synthase 1	14q32.33	Chr14, NC_000014.9 (104724229..104747325)	23097 nt	16	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
23	EARS2/124454	glutamyl-tRNA synthetase 2, mitochondrial	16p12.2	Chr16, NC_000016.10 (23520754..23557375, complement)	36622 nt	10	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
24	CNTNAP1/8506	contactin associated protein 1	17q21.2	Chr17, NC_000017.11 (42682531..42699993)	17463 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
25	SCN4A/6329	sodium voltage-gated channel alpha subunit 4	17q23.3	Chr17, NC_000017.11 (63938554..63972918, complement)	34365 nt	24	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
26	PIEZO2/63895	piezo type mechanosensitive ion channel component 2	18p11.22	Chr18, NC_000018.10 (10670247..11149569, complement)	479323 nt	58	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
27	ATP2B3/492	ATPase plasma membrane Ca2+ transporting 3	Xq28	ChrX, NC_000023.11 (153517642..153582929)	65288 nt	26	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
28	SCYL2/55681	SCY1 like pseudokinase 2	12q23.1	Chr12, NC_000012.12 (100267177..100341715)	74539 nt	20	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
29	TOR1A/1861	torsin family 1 member A	9q34.11	Chr9, NC_000009.12 (129812942..129824136, complement)	11195 nt	5	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
30	SENP7/57337	SUMO specific peptidase 7	3q12.3	Chr3, NC_000003.12 (101324205..101513212, complement)	189008 nt	26	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development