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Limb disorders

Gene: SMC1A

Green List (high evidence)

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 14 panels

4 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient evidence for causation. CdLS is associated with variable limb defects, which can involve radii / thumbs and therefore appropriate for inclusion.
Created: 11 May 2017, 12:47 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML); Especially in Down syndrome AML

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 1 Aug 2016, 6:59 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:08 a.m.

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

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Cornelia de Lange syndrome 2, 300590
  • Cornelia de Lange syndrome 2 300590
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 3

16 Oct 2018, Gel status: 4

Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Added phenotypes Cornelia de Lange syndrome 2, 300590 for gene: SMC1A Publications for gene SMC1A were changed from to 20358602

5 Apr 2018, Gel status: 4

Added New Source, Added New Source, Added New Source, Added New Source, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to SMC1A. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to SMC1A. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to SMC1A. Panel: Limb disorders Emory Genetics Laboratory was added to SMC1A. Panel: Limb disorders Expert list was added to SMC1A. Panel: Limb disorders Model of inheritance for gene SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to SMC1A. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SMC1A was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SMC1A was created by Ellen McDonagh