GenTIGS

Lists of Rare Genetic Disorders

Emery-Dreifuss Muscular Dystrophy(Humeroperoneal neuromuscular disease) Explore Disorder's Alias
An 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	FHL1/2273	four and a half LIM domains 1	Xq26.3	ChrX, NC_000023.11 (136146702..136211359)	64658 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
3	LMNA/4000	lamin A/C	1q22	Chr1, NC_000001.11 (156082573..156140081)	57509 nt	17	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
4	TMEM43/79188	transmembrane protein 43	3p25.1	Chr3, NC_000003.12 (14125052..14143680)	18629 nt	12	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
5	SYNE2/23224	spectrin repeat containing nuclear envelope protein 2	14q23.2	Chr14, NC_000014.9 (63761596..64226449)	464854 nt	125	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
6	SUN1/23353	Sad1 and UNC84 domain containing 1	7p22.3	Chr7, NC_000007.14 (815557..874934)	59378 nt	30	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
7	SUN2/25777	Sad1 and UNC84 domain containing 2	22q13.1	Chr22, NC_000022.11 (38734734..38755998, complement)	21265 nt	23	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
8	EMD/2010	emerin	Xq28	ChrX, NC_000023.11 (154379295..154381523)	2229 nt	6	More...	OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene
Variant Information
Disorder Cross-References: GARD GTR MalaCards NORD

Patient care services

Clinical Symptoms & Disabilities

Prevalence

Under development