PanelApp
  1. Genes and Genomic Entities
  2. NIPBL

NIPBL

NIPBL, cohesin loading factor
OMIM: 608667, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green NIPBL in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.224

0 reviews 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 0.159

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NIPBL in Congenital diaphragmatic hernia


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.17

    		1 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 0.474

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red NIPBL in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.328

    		1 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

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NIPBL in Mendeliome


    Version 1.3512

    		1 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 1.357

    		1 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 1.19

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 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 1.410

    		1 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 0.346

    		1 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

    		0 reviews 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 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    Phenotypes
    • CDLS1
    • CORNELIA DE LANGE SYNDROME 1

    Green NIPBL in Growth failure


    Version 1.83

    		1 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 0.78

    Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel

    		•  1 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 1.465

    		2 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Cornelia de Lange syndrome 1, MIM# 122470