NIPBL

NIPBL, cohesin loading factor
OMIM: 608667, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green NIPBL in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NIPBL in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.145 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NIPBL in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, MIM# 122470
Green NIPBL in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red NIPBL in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.324	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Cornelia de Lange syndrome 1, MIM# 122470
Green NIPBL in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green NIPBL in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, MIM#122470
Green NIPBL in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.301	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cornelia de Lange syndrome 1, MIM# 122470
Green NIPBL 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Cornelia de Lange syndrome 1, MIM# 122470
Green NIPBL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Cornelia de Lange syndrome 1, MIM # 122470
Green NIPBL in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	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 Cornelia de Lange syndrome 1 122470
Green NIPBL 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 Cornelia de Lange syndrome
Green NIPBL in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes CDLS1 CORNELIA DE LANGE SYNDROME 1
Green NIPBL in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Cornelia de Lange syndrome 1, MIM # 122470
Green NIPBL 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	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cornelia de Lange syndrome 1 122470
Green NIPBL in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Cornelia de Lange syndrome 1, MIM# 122470
Red NIPBL in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Cornelia de Lange syndrome 1, MIM# 122470