This Panel is marked as Internal
Anaemias and red cell disorders
Gene: SMC1A
SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
1 review
BRIDGE consortium (NIHRBR-RD)
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
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Especially in Down syndrome AML
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Early onset or syndromic epilepsy
- Limb disorders
- DDG2P
- Intellectual disability
- Holoprosencephaly - NOT chromosomal
- Monogenic short stature
- Osteogenesis imperfecta
- Clefting
- IUGR and IGF abnormalities
- Fetal anomalies
- Severe microcephaly
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Radial dysplasia
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)SMC1A was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)SMC1A was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)