NECTIN1

nectin cell adhesion molecule 1
OMIM: 600644, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Amber NECTIN1 in COVID-19 research


Level 2: Viral research
Version 1.79

review Unknown
Sources
  • Expert Review Amber
  • OMIM
  • Expert list

Green NECTIN1 in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060
  • Orofacial cleft 7, 225060

Green NECTIN1 in Ectodermal dysplasia without a known gene mutation

Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060
  • Orofacial cleft 7, 225060

Amber NECTIN1 in Fetal anomalies


Version 1.717
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060
  • Orofacial cleft 7, OMIM:225060
Tags
  • for-review

Red NECTIN1 in DDG2P


Version 2.44
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME 225060

    Green NECTIN1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.49
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cleft lip/Palate ectodermal dysplasia syndrome, 225060
    • Orofacial cleft 7, 225060
    • Cleft Lip with or without Cleft Palate
    • Zlotogora-Ogur syndrome
    • CLP, partial syndactyly of digits, intellectual disability, dysmorphism
    • Ectodermal dysplasia, Margarita Island type
    • Cleft lip

    Red NECTIN1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1282
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Cleft lip/palate-ectodermal dysplasia syndrome, 225060Orofacial cleft 7, 225060
    • CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME

    Green NECTIN1 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Orofacial cleft 7, 225060
    • Cleft lip/palate-ectodermal dysplasia syndrome, 225060