Holoprosencephaly and septo-optic dysplasia
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 18 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple females reported with EE/HPE and LOF variants in this gene. Note gene also causes CdL.
Sources: LiteratureCreated: 7 Jun 2020, 8:28 a.m.
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)
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
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- Angelman Rett like syndromes
- Microcephaly
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Hand and foot malformations
- Radial Ray Abnormalities
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Congenital diaphragmatic hernia
- Growth failure
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smc1a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smc1a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMC1A was added gene: SMC1A was added to Holoprosencephaly and septo-optic dysplasia. Sources: Literature Mode of inheritance for gene: SMC1A was set to Other Publications for gene: SMC1A were set to 31334757; 28166369 Phenotypes for gene: SMC1A were set to Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Review for gene: SMC1A was set to GREEN