Growth failure in early childhood
Gene: SMC1AEnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that this gene was outside the scope of this clinical indication. Therefore demoted gene from Green to Red.Created: 30 May 2019, 9:49 a.m.
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 Red
- Phenotypes
-
- Cornelia de Lange syndrome 2, OMIM:300590
- Cornelia de Lange syndrome 2, MONDO:0010370
- Developmental and epileptic encephalopathy 85, with or without 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
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SMC1A were changed from Cornelia De Lange to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Red was added to SMC1A. Rating Changed from Green List (high evidence) to Red List (low evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: SMC1A was added gene: SMC1A was added to Growth failure in early childhood. Sources: Expert Review Green 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) Phenotypes for gene: SMC1A were set to Cornelia De Lange