Entry Search - 608441 610743 - OMIM
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Search: '608441 610743 (Search in: MIM number)'
Results: 2 entries.

1:
* 608441. SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1; SYNE1
CPG2 ISOFORM, INCLUDED; CPG2, INCLUDED
Cytogenetic location: 6q25.2, Genomic coordinates (GRCh38): 6:152,121,687-152,637,362
Matching terms: 608441
► Gene-Phenotype Relationships  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
6q25.2 Arthrogryposis multiplex congenita 3, myogenic type 618484 AR 3
Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998 AD 3
Spinocerebellar ataxia, autosomal recessive 8 610743 AR 3
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2:
# 610743. SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8
Cytogenetic location: 6q25.2
Matching terms: 610743
► Phenotype-Gene Relationships  ► Phenotypic Series  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
6q25.2 Spinocerebellar ataxia, autosomal recessive 8 610743 AR 3 SYNE1 608441
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Spinocerebellar ataxia, autosomal recessive - PS213200 - 32 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1p36.22-p36.21 Spinocerebellar ataxia, autosomal recessive 4 AR 3 607317 VPS13D 608877
1p36.11 Lichtenstein-Knorr syndrome AR 3 616291 SLC9A1 107310
1p12 Spinocerebellar ataxia, autosomal recessive 27 AR 3 618369 GDAP2 618128
1q32.2 ?Spinocerebellar ataxia, autosomal recessive 11 AR 3 614229 SYT14 610949
1q42.13 Coenzyme Q10 deficiency, primary, 4 AR 3 612016 COQ8 606980
2q11.2 ?Spinocerebellar ataxia, autosomal recessive 22 AR 3 616948 VWA3B 614884
3p25.3 Spinocerebellar ataxia, autosomal recessive 31 AR 3 619422 ATG7 608760
3p22.1-p21.33 Spinocerebellar ataxia, autosomal recessive 10 AR 3 613728 ANO10 613726
3q22.1 ?Spinocerebellar ataxia, autosomal recessive 24 AR 3 617133 UBA5 610552
3q29 Spinocerebellar ataxia, autosomal recessive 15 AR 3 615705 RUBCN 613516
4q22.1-q22.2 Spinocerebellar ataxia, autosomal recessive 18 AR 3 616204 GRID2 602368
5q33.3 Spinocerebellar ataxia, autosomal recessive 28 AR 3 618800 THG1L 618802
6p23-p21 Spinocerebellar ataxia, autosomal recessive 3 AR 2 271250 SCAR3 271250
6p22.3 Spinocerebellar ataxia, autosomal recessive 23 AR 3 616949 TDP2 605764
6q14.3 Spinocerebellar ataxia, autosomal recessive 20 AR 3 616354 SNX14 616105
6q21 ?Spinocerebellar ataxia, autosomal recessive 25 AR 3 617584 ATG5 604261
6q24.3 Spinocerebellar ataxia, autosomal recessive 13 AR 3 614831 GRM1 604473
6q25.2 Spinocerebellar ataxia, autosomal recessive 8 AR 3 610743 SYNE1 608441
7p14.1 Spinocerebellar ataxia, autosomal recessive 29 AR 3 619389 VPS41 605485
8q12.1 Spinocerebellar ataxia, autosomal recessive 34 AR 3 613227 CA8 114815
9q34.3 Spinocerebellar ataxia, autosomal recessive 2 AR 3 213200 PMPCA 613036
10p15.2 Spinocerebellar ataxia, autosomal recessive 30 AR 3 619405 PITRM1 618211
10q24.31 Spinocerebellar ataxia, autosomal recessive 17 AR 3 616127 CWF19L1 616120
10q26.11 Spinocerebellar ataxia, autosomal recessive 32 AR 3 619862 PRDX3 604769
11p15.4 Spinocerebellar ataxia, autosomal recessive 7 AR 3 609270 TPP1 607998
11q13.1 Spinocerebellar ataxia, autosomal recessive 21 AR 3 616719 SCYL1 607982
11q13.2 Spinocerebellar ataxia, autosomal recessive 14 AR 3 615386 SPTBN2 604985
16p13.3 Spinocerebellar ataxia, autosomal recessive 16 AR 3 615768 STUB1 607207
16q23.1-q23.2 Spinocerebellar ataxia, autosomal recessive 12 AR 3 614322 WWOX 605131
19q13.31 ?Spinocerebellar ataxia, autosomal recessive 26 AR 3 617633 XRCC1 194360
20q11-q13 Spinocerebellar ataxia, autosomal recessive 6 AR 2 608029 SCAR6 608029
22q13.2 ?Spinocerebellar ataxia, autosomal recessive 33 AR 3 620208 RNU12 620204
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ICD+
ORPHA: 88644
DO: 0111618
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Search: 608441 610743 (Search in: MIM number)
Results: 2 entries.

1:
* 608441. SPECTRIN REPEAT-CONTAINING NUCLEAR ENVELOPE PROTEIN 1; SYNE1
CPG2 ISOFORM, INCLUDED; CPG2, INCLUDED
Cytogenetic location: 6q25.2, Genomic coordinates (GRCh38): 6:152,121,687-152,637,362
Matching terms: 608441

2:
# 610743. SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8
Cytogenetic location: 6q25.2
Matching terms: 610743


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 5, 2025