SMC1A

structural maintenance of chromosomes 1A
OMIM: 300040, ClinGen, DECIPHER

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green SMC1A in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.11	1 review	Other	Sources Expert Review Green Expert list Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Amber SMC1A in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	1 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 Amber Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, MIM# 300590
Red SMC1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	1 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 Literature Phenotypes Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044
Green SMC1A in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SMC1A in Holoprosencephaly and septo-optic dysplasia Level 2: Neurology and neurodevelopmental disorders Version 1.17	2 reviews	Other	Sources Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Green SMC1A in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	1 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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, MIM# 300590
Green SMC1A in Mendeliome Version 1.2302	2 reviews	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 Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Green SMC1A in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.295	1 review	Other	Sources Expert Review Green Expert list Phenotypes Cornelia de Lange syndrome 2, MIM# 300590
Green SMC1A in Radial Ray Abnormalities Level 2: Dysmorphic and congenital abnormality syndromes Version 1.15 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 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 Expert list Phenotypes Cornelia de Lange syndrome 2, MIM# 300590
Green SMC1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	Other	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044
Green SMC1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 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 Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 2 MONDO:0010370
Green SMC1A in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	2 reviews	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 Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2 300590
Green SMC1A in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Cornelia de Lange syndrome
Green SMC1A in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	0 reviews	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 CDLS2 CORNELIA DE LANGE SYNDROME 2
Green SMC1A in Growth failure Version 1.76	1 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 Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 2, OMIM # 300590, MONDO:0010370
Green SMC1A in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 2 300590
Green SMC1A in Fetal anomalies Version 1.313	1 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 Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 Cornelia de Lange syndrome 2, OMIM:300590 Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044 Cornelia de Lange syndrome 2, MONDO:0010370
Red SMC1A in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red BabySeq Category A gene Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044