SMC1A

structural maintenance of chromosomes 1A
OMIM: 300040, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green SMC1A in Radial dysplasia Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.24	review	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 Other Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370
Green SMC1A in IUGR and IGF abnormalities Level 3: Growth hormone disorders Level 2: Endocrine disorders Version 1.69	review	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 Emory Genetics Laboratory Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370
Green SMC1A in Limb disorders Version 4.23 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Review Green London South East RGC GSTT Viapath Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370
Red SMC1A in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.118	review	Unknown	Sources Expert Review Red BRIDGE consortium (NIHRBR-RD) Phenotypes Acute Promyelocytic Leukemia Acute myeloid leukaemia (AML) Especially in Down syndrome AML Tags somatic
Green SMC1A in Holoprosencephaly - NOT chromosomal Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Cerebral malformation	review	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 Other Phenotypes Developmental and epileptic encephalopathy 85, with midline brain defects, OMIM:301044 Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771
Green SMC1A in Severe microcephaly Level 3: DNA repair disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.88 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Literature 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 Tags gene-duplication
Green SMC1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.65 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 Cornelia de Lange syndrome 2, MONDO:0010370
Green SMC1A in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources PAGE DD-Gene2Phenotype 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
Red SMC1A in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Phenotypes Cornelia de Lange syndrome 2, OMIM:300590 craniosynostosis, MONDO:0015469
No list SMC1A in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Expert Review Removed Emory Genetics Laboratory Phenotypes Proportionate Short Stature/Small for Gestational Age Tags curated_removed
Green SMC1A in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME TYPE 2 300590 EPILEPTIC ENCEPHALOPATHY
Green SMC1A in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.111 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	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
Red SMC1A in Growth failure in early childhood Version 3.95 Latest signed off version: v3.0 (22 Mar 2023)	review	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
Green SMC1A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services 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
Green SMC1A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Victorian Clinical Genetics Services Expert Review Green Emory Genetics Laboratory 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
Red SMC1A in Groopman et al 2019 - Genes with diagnostic variants Version 0.8	review	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 Expert review red Literature Phenotypes Congenital or cystic renal disease MIM 300590 Cornelia de Lange syndrome 2
Green SMC1A in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Next Generation Children Project Expert Review Green Expert list 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