TYROBP

TYRO protein tyrosine kinase binding protein
OMIM: 604142, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green TYROBP in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Dementia

Red TYROBP in White matter disorders and cerebral calcification - narrow panel


Version 1.181
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Nasu-Hakola disease, MIM#221770

    Green TYROBP in White matter disorders - adult onset


    Version 1.16
    Latest signed off version: v1.6 (15 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Yorkshire and North East GLH
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770

    No list TYROBP in Intracerebral calcification disorders

    Level 3: Parenchymal brain disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM# 221770

    Red TYROBP in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.126

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Nasu-Hakola disease, MIM#221770

    Green TYROBP in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.101
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Nasu-Hakola disease 221770

    Green TYROBP in Neurodegenerative disorders - adult onset


    Version 2.174
    Latest signed off version: v2.31 (8 Oct 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770

    Red TYROBP in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.14
    Latest signed off version: v2.2 (13 Feb 2020)

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias

    Green TYROBP in Severe Paediatric Disorders


    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770

    Green TYROBP in Osteopetrosis

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.26
    Latest signed off version: v1.1 (21 Sep 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 OMIM:221770