Holoprosencephaly

Gene: SMC1A

No list

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 16 panels

1 review

Shane Mckee (Belfast HSC Trust)

Green List (high evidence)

Cohesin complex genes SMC1A, STAG4 etc need added to the panel; loss of function mutations in females (X-linked dominant)
Sources: Other
Created: 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

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
Phenotypes
  • holoprosencephaly
  • single central incisor
OMIM
300040
Clinvar variants
Variants in SMC1A
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

7 Jun 2020, Gel status: 0

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