Holoprosencephaly - NOT chromosomal
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 4:15 p.m. | Last Modified: 9 Mar 2022, 4:15 p.m.
Panel Version: 2.25
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added by external reviewer. At least 6 unrelated females with holoprosencephaly, mostly commonly semi-lobar type, associated with de novo variants in this gene (PMIDs: 28166369 and 31334757). Likely represents the severe end of the spectrum of SMC1A-related disorders.
Sufficient evidence to rate Green at the next GMS panel update (added 'for-review' tag)Created: 24 Dec 2020, 3:18 p.m. | Last Modified: 24 Dec 2020, 3:18 p.m.
Panel Version: 2.12
Shane Mckee (Belfast HSC Trust)
Cohesin complex genes SMC1A, STAG4 etc need added to the panel; loss of function mutations in females (X-linked dominant)
Sources: OtherCreated: 7 Jun 2020, 7:57 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
holoprosencephaly; single central incisor
Publications
- PMID: 31334757
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
- Phenotypes
-
- Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044
- Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Clefting
- Monogenic short stature
- Osteogenesis imperfecta
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Severe microcephaly
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Holoprosencephaly - NOT chromosomal
- Radial dysplasia
- Intellectual disability
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: SMC1A.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to SMC1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Arina Puzriakova (Genomics England Curator)Tag for-review tag was added to gene: SMC1A.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: smc1a has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SMC1A were set to PMID: 31334757
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMC1A were changed from holoprosencephaly; single central incisor to Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Shane Mckee (Belfast HSC Trust)gene: SMC1A was added gene: SMC1A was added to Holoprosencephaly. Sources: Other Mode 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) Publications for gene: SMC1A were set to PMID: 31334757 Phenotypes for gene: SMC1A were set to holoprosencephaly; single central incisor Penetrance for gene: SMC1A were set to Incomplete Review for gene: SMC1A was set to GREEN