Clefting
Gene: SMC1A

SMC1A (structural maintenance of chromosomes 1A)
EnsemblGeneIds (GRCh38): ENSG00000072501
EnsemblGeneIds (GRCh37): ENSG00000072501
OMIM: 300040, Gene2Phenotype
SMC1A is in 15 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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; CDLS2

Created: 26 May 2017, 7:39 a.m.

Panel version: 0.193

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

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

Complete

Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SMC1A were changed from CORNELIA DE LANGE SYNDROME 2; CDLS2 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

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SMC1A was added to Cleftingpanel. Sources: Expert Review Green

26 May 2017, Gel status: 0

Created