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Genetic Epilepsy

Gene: SMC1A

Green List (high evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 18 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL.
Created: 7 Jun 2020, 8:29 a.m. | Last Modified: 7 Jun 2020, 8:29 a.m.
Panel Version: 0.716

Mode of inheritance
Other

Phenotypes
Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044

Publications

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

SMC1A truncation mutations are seen only in females and cause a condition in which the typical features of CdLS are often absent. These patients are affected by moderate to severe developmental impairment and drug-resistant epilepsy.
Loss of function and dominant negative have both been reported as disease mechanisms.
Created: 3 Mar 2020, 12:53 a.m. | Last Modified: 3 Mar 2020, 12:53 a.m.
Panel Version: 0.1590

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Cornelia de Lange syndrome 2 300590

Publications

History Filter Activity

7 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smc1a has been classified as Green List (High Evidence).

7 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMC1A were changed from to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044

7 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMC1A were set to

7 Jun 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SMC1A was changed from Unknown to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMC1A was added gene: SMC1A was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMC1A was set to Unknown