NSD1

nuclear receptor binding SET domain protein 1
OMIM: 606681, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 panels
Green NSD1 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red NSD1 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, MIM# 117550
Red NSD1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Sotos syndrome, MIM#117550
Green NSD1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NSD1 in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.123	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NSD1 in Hyperinsulinism Level 2: Endocrine disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Sotos syndrome (OMIM#117550)
Green NSD1 in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.140	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NSD1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1 (MIM#117550), AD
Green NSD1 in Overgrowth Level 2: Dysmorphic and congenital abnormality syndromes Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, MIM# 117550 Tags SV/CNV
Green NSD1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Sotos syndrome 1 (MIM#117550), AD
Green NSD1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NSD1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Sotos syndrome MONDO:0019349
Green NSD1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Phenotypes Sotos syndrome 1 117550
Red NSD1 in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes NA
Green NSD1 in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Sotos syndrome 1 117550
Green NSD1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Sotos syndrome
Green NSD1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Sotos syndrome 1, MIM# 117550
Red NSD1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Sotos syndrome 1, MIM# 117550