Entry Search - 270550 604490

Search: '270550 604490 (Search in: MIM number)'

Results: 2 entries.

* 604490. SACSIN; SACS
Cytogenetic location: 13q12.12, Genomic coordinates (GRCh38): 13:23,328,830-23,433,702
Matching terms: 604490
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
13q12.12	Spastic ataxia, Charlevoix-Saguenay type	270550	AR	3

▲ Close

Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB ZFin	Cellular Pathways Reactome

▲ Close

ICD+
SNOMEDCT: 702445005

▲ Close

# 270550. SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
Cytogenetic location: 13q12.12
Matching terms: 270550
► 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
13q12.12	Spastic ataxia, Charlevoix-Saguenay type	270550	AR	3	SACS	604490

▲ Close

Spastic ataxia - PS108600 - 10 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q33.1	Spastic ataxia 3, autosomal recessive	AR	3	611390	MARS2	609728
9q34.11	Spastic ataxia 10, autosomal recessive	AR	3	620666	COQ4	612898
10p11.23	?Spastic ataxia 4, autosomal recessive	AR	3	613672	MTPAP	613669
10q26.3	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	AR	3	617560	NKX6-2	605955
12p13.31	Spastic ataxia 1, autosomal dominant	AD	3	108600	VAMP1	185880
13q12.12	Spastic ataxia, Charlevoix-Saguenay type	AR	3	270550	SACS	604490
15q15.1	?Spastic ataxia 9, autosomal recessive	AR	3	618438	CHP1	606988
17p13.2	Spastic ataxia 2, autosomal recessive	AR	3	611302	KIF1C	603060
18p11.21	Spastic ataxia 5, autosomal recessive	AR	3	614487	AFG3L2	604581
Not Mapped	Spastic ataxia 7, autosomal dominant	AD		108650	SPAX7	108650

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Hereditary Ataxia Overview ARSACS Genetic Alliance MedlinePlus Genetics GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

▲ Close

ICD+
SNOMEDCT: 702445005 ORPHA: 98 DO: 0050946

▲ Close

Search: 270550 604490 (Search in: MIM number)

Results: 2 entries.

* 604490. SACSIN; SACS
Cytogenetic location: 13q12.12, Genomic coordinates (GRCh38): 13:23,328,830-23,433,702
Matching terms: 604490

# 270550. SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE; SACS
Cytogenetic location: 13q12.12
Matching terms: 270550

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