Radial dysplasia

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.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Somatic variants associated with acute myeloid leukemia. (Associated with phenotype Cornelia de Lange syndrome 2 (mim 300590) and as a confirmed G2P. At least 6 variants reported, however, this phenotype is not relevant to this panel)
Created: 9 Mar 2017, 3:18 p.m.
Comment on mode of inheritance: MOI is X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) for Cornelia de Lange syndrome 2 300590
Created: 9 Mar 2017, 3:14 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

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 Review Green
  • Other
Phenotypes
  • Cornelia de Lange syndrome 2, 300590
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Set publications

Helen Brittain (Genomics England Curator)

Publications for SMC1A were set to 20358602

5 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SMC1A was added to Radial dysplasiapanel. Sources: Other

5 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SMC1A was created by rfoulger