NOG

noggin
OMIM: 602991, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green NOG in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brachydactyly, type B2 - MIM#611377
  • Multiple synostoses syndrome 1 (MIM#186500)
  • Stapes ankylosis with broad thumbs and toes (MIM#184460)
  • Symphalangism, proximal, 1A (MIM#185800)
  • Tarsal-carpal coalition syndrome (MIM#186570)

Green NOG in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

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

Red NOG in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.328

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health QLD
Phenotypes
  • Symphalangism, proximal, 1A MIM#185800

Green NOG 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
  • Symphalangism, proximal, 1A

Green NOG in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

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
    • Stapes ankylosis with broad thumb and toes 184460
    • Symphalangism, proximal, 1A 185800
    • Multiple synostoses syndrome 1 186500
    • Tarsal-carpal coalition syndrome 186570
    • Brachydactyly, type B2 611377

    Amber NOG in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    Phenotypes
    • Brachydactyly, type B2 (MIM#611377)
    • Multiple synostoses syndrome 1 (MIM#186500)
    • Stapes ankylosis with broad thumbs and toes (MIM#184460)
    • Symphalangism, proximal, 1A (MIM#185800)
    • Tarsal-carpal coalition syndrome (MIM#186570)

    Red NOG 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
    • Brachydactyly, type B2 - MIM#611377
    • Multiple synostoses syndrome 1 (MIM#186500)
    • Stapes ankylosis with broad thumbs and toes (MIM#184460)
    • Symphalangism, proximal, 1A (MIM#185800)
    • Tarsal-carpal coalition syndrome (MIM#186570)