VPS13B

vacuolar protein sorting 13 homolog B
OMIM: 607817, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels
Green VPS13B in COVID-19 research


Level 2: Viral research
Version 1.142

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Congenital neutropaenia v1.22
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Cohen syndrome, 216550
  • Congenital defects of phagocyte number or function
  • Dysmorphism, mental retardation, obesity, deafness, neutropenia
  • Cohen syndrome
Green VPS13B in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Obesity
  • Cohen syndrome, OMIM:216550
Green VPS13B in Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen syndrome
Green VPS13B 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
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
  • Congenital neutropaenia v1.22
Phenotypes
  • Cohen syndrome, 216550
  • Cohen syndrome
  • Dysmorphism, mental retardation, obesity, deafness, neutropenia
  • Congenital defects of phagocyte number or function
Red VPS13B in Cytopenia - NOT Fanconi anaemia


Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Cohen syndrome, 216550
Green VPS13B in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COHEN SYNDROME
Green VPS13B in DDG2P


Version 4.5
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
    • COHEN SYNDROME 193538
    Green VPS13B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Cohen syndrome, 216550
    • COHEN SYNDROME
    Green VPS13B in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.11
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genetic Retinal Degeneration Conditions
    Green VPS13B in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Cohen syndrome, 216550
    • COHEN SYNDROME
    Green VPS13B in Ophthalmological ciliopathies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Cohen syndrome, 216550
    • COHEN SYNDROME
    Green VPS13B in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Cohen syndrome, 216550
    • COHEN SYNDROME
    Red VPS13B in Childhood onset dystonia, chorea or related movement disorder


    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Cohen syndrome, 216550
    • COHEN SYNDROME
    Green VPS13B in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cohen syndrome, 216550