SDCCAG8

serologically defined colon cancer antigen 8
OMIM: 613524, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Red SDCCAG8 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.9

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green SDCCAG8 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 2.3
Signed off v.2.2 on 18 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Bardet-Biedl syndrome 16
  • Bardet-Biedl syndrome 16, 615993

Red SDCCAG8 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.7

review Not set
Sources
  • Emory Genetics Laboratory

Red SDCCAG8 in Limb disorders


Version 2.18
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Senior-Loken syndrome 7, 613615
    • Bardet-Biedl syndrome 16, 615993

    No list SDCCAG8 in Ductal plate malformation


    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Bardet-Biedl syndrome 16 (615993)

    Green SDCCAG8 in Bardet Biedl syndrome


    Version 1.5
    Signed off v.1.2 on 18 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Other
    • Expert Review Green
    Phenotypes
    • Senior-Loken syndrome 7, 613615
    • Bardet-Biedl syndrome 16, 615993

    Red SDCCAG8 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 2.19
    Signed off v.2.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red SDCCAG8 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.92

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert
    • Expert Review Red
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease

    Red SDCCAG8 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.26

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies

    Red SDCCAG8 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.32
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Bardet-Biedl syndrome 16, 615993

    Green SDCCAG8 in Unexplained paediatric onset end-stage renal disease


    Version 1.11
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Bardet-Biedl syndrome 16 615993
    • Senior-Loken syndrome 7 613615

    Green SDCCAG8 in Fetal anomalies


    Version 1.115
    Signed off v.1.92 on 21 Aug 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SENIOR-LOKEN SYNDROME 7

    Green SDCCAG8 in DDG2P


    Version 2.12
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • SENIOR-LOKEN SYNDROME 7 613615

    Green SDCCAG8 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.568
    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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Senior-Loken syndrome 7, 613615
    • Bardet-Biedl syndrome 16, 615993
    • Intellectual disability

    Green SDCCAG8 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.21
    Signed off v.2.7 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Eye Disorders

    Red SDCCAG8 in Structural eye disease


    Version 1.15
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Bardet-Biedl syndrome 16, 615993
    • Senior-Loken syndrome 7, 613615
    • Eye Disorders

    Green SDCCAG8 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.130

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • SENIOR-LOKEN SYNDROME
    • Bardet-Biedl Syndrome
    • 613615
    • Senior-Loken syndrome

    Green SDCCAG8 in Ophthalmological ciliopathies


    Version 1.8
    Signed off v.1.3 on 19 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • SENIOR-LOKEN SYNDROME
    • Bardet-Biedl Syndrome
    • 613615
    • Senior-Loken syndrome

    Green SDCCAG8 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.31
    Signed off v.1.2 on 4 Mar 2020

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • SENIOR-LOKEN SYNDROME
    • Bardet-Biedl Syndrome
    • 613615
    • Senior-Loken syndrome

    No list SDCCAG8 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Orphanet
    • Expert list
    Phenotypes
    • SENIOR-LOKEN SYNDROME
    • Bardet-Biedl Syndrome
    • 613615
    • Senior-Loken syndrome

    Red SDCCAG8 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.64
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green SDCCAG8 in Severe Paediatric Disorders


    Version 1.20

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Senior-Loken syndrome 7, 613615
    • Bardet-Biedl syndrome 16, 615993