NOG

noggin
OMIM: 602991, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Amber NOG in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency

Red NOG in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review Not set
Sources
  • Emory Genetics Laboratory

Green NOG in Limb disorders


Version 2.3
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Emory Genetics Laboratory
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Brachydactyly, type B2 611377
    • Multiple synostoses syndrome 1 186500
    • Stapes ankylosis with broad thumb and toes 184460
    • Symphalangism, proximal, 1A 185800
    • Tarsal-carpal coalition syndrome 186570

    Green NOG in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    Phenotypes
    • Symphalangism, proximal, 1A 185800
    • Brachydactyly, type B2 611377
    • Tarsal-carpal coalition syndrome 186570
    • Stapes ankylosis with broad thumb and toes 184460
    • Multiple synostoses syndrome 1 186500

    Green NOG in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRACHYDACTYLY TYPE B2
    • SYMPHALANGISM PROXIMAL SYNDROME
    • MULTIPLE SYNOSTOSES SYNDROME TYPE 1
    • TARSAL-CARPAL COALITION SYNDROME
    • STAPES ANKYLOSIS WITH BROAD THUMB AND TOES

    Red NOG in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Tarsal-carpal coalition syndrome
    • Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
    • Brachydactyly type B2
    • Multiple synostosis syndrome
    • Symphalangism, proximal

    Green NOG in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TARSAL-CARPAL COALITION SYNDROME 186570
    • MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500
    • STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460
    • BRACHYDACTYLY TYPE B2 611377
    • SYMPHALANGISM PROXIMAL SYNDROME 185800

    Amber NOG in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Symphalangism, proximal, 185800
    • Multiple synostoses syndrome 1, 186500
    • Tarsal-carpal coalition syndrome, 186570
    • Stapes ankylosis with broad thumb and toes, 184460
    • Brachydactyly, type B2, 611377

    Green NOG in Severe Paediatric Disorders


    Version 1.1

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tarsal-carpal coalition syndrome, 186570
    • Symphalangism, proximal, 1A, 185800
    • Brachydactyly, type B2, 611377
    • Stapes ankylosis with broad thumbs and toes, 184460
    • Multiple synostoses syndrome 1, 186500