SKIV2L

Ski2 like RNA helicase
OMIM: 600478, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green SKIV2L in Infantile enterocolitis & monogenic inflammatory bowel disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.44

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Trichohepatoenteric syndrome 2 614602
Tags
  • new-gene-name
Green SKIV2L in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Trichohepatoenteric syndrome 2, 614602
  • Trichohepatoenteric Syndrome
  • Inflammatory Bowel Disease (Very Early Onset)
Tags
  • new-gene-name
Green SKIV2L in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • ESID Registry 20171117
  • GOSH PID v.8.0
Phenotypes
  • Trichohepatoenteric syndrome 2,614602
  • Immune dysfunction
  • Trichohepatoenteric syndrome
Tags
  • new-gene-name
Green SKIV2L in Intestinal failure or congenital diarrhoea


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
Phenotypes
  • Trichohepatoenteric syndrome 2, OMIM:614602
Tags
  • new-gene-name
Green SKIV2L in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • ESID Registry 20171117
  • GOSH PID v.8.0
Phenotypes
  • Trichohepatoenteric syndrome 2,614602
  • Trichohepatoenteric syndrome
  • Immune dysfunction
Tags
  • early-onset
  • new-gene-name
Green SKIV2L in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.620

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Trichohepatoenteric syndrome 2 (Other metabolic disorders)
  • Infantile enterocolitis & monogenic inflammatory bowel disease
Tags
  • new-gene-name
Green SKIV2L in Likely inborn error of metabolism - targeted testing not possible


Version 5.4
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Infantile enterocolitis & monogenic inflammatory bowel disease
    • Trichohepatoenteric syndrome 2 (Other metabolic disorders)
    Tags
    • new-gene-name
    Red SKIV2L in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • TRICHOHEPATOENTERIC SYNDROME 2
    Tags
    • new-gene-name
    Green SKIV2L in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TRICHOHEPATOENTERIC SYNDROME 2 615602
    Tags
    • new-gene-name
    Red SKIV2L in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Trichohepatoenteric syndrome 2, 614602
    Tags
    • new-gene-name
    Red SKIV2L in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green SKIV2L in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Trichohepatoenteric syndrome 2, 614602
    Tags
    • new-gene-name