Microcephaly
Gene: SMC1A
SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 18 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
XLD. Well established gene-disease association. Microcephaly is part of the phenotype.
Sources: Expert listCreated: 3 Sep 2020, 8:51 a.m.
Mode of inheritance
Other
Phenotypes
Cornelia de Lange syndrome 2, MIM# 300590
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Cornelia de Lange syndrome 2, MIM# 300590
- OMIM
- 300040
- Clinvar variants
- Variants in SMC1A
- Penetrance
- None
- 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
3 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smc1a has been classified as Green List (High Evidence).
3 Sep 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: smc1a has been classified as Green List (High Evidence).
3 Sep 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SMC1A was added gene: SMC1A was added to Microcephaly. Sources: Expert list Mode of inheritance for gene: SMC1A was set to Other Phenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM# 300590 Review for gene: SMC1A was set to GREEN