PUF60

poly(U) binding splicing factor 60
OMIM: 604819, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red PUF60 in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Verheij syndrome, 615583

Green PUF60 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Verheij syndrome, 615583
  • VRJS
  • Chromosome 8q24.3 deletion syndrome
  • PUF60 syndrome
Tags
  • microdeletion

Green PUF60 in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.34

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Verheij syndrome, 615583
  • VRJS
  • Chromosome 8q24.3 deletion syndrome
  • PUF60 syndrome
  • ocular abnormalities
Tags
  • microdeletion

Green PUF60 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    • Literature
    Phenotypes
    • Verheij syndrome, 615583
    • PUF60 syndrome
    • VRJS
    • Chromosome 8q24.3 deletion syndrome
    Tags
    • microdeletion

    Green PUF60 in Fetal anomalies


    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PUF60 syndrome

    Green PUF60 in DDG2P


    Version 2.0

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • 8Q24.3 DELETION-LIKE
    • PUF60 syndrome
    Tags
    • watchlist

    Green PUF60 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Expert Review Red
    Phenotypes
    • Syndromic intellectual disability
    • Verheij syndrome, 615583
    • VRJS
    • Chromosome 8q24.3 deletion syndrome
    • PUF60 syndrome
    • Intellectual disability
    Tags
    • microdeletion

    Green PUF60 in Structural eye disease


    Version 1.0

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Verheij syndrome, 615583
    • PUF60 syndrome
    • Chromosome 8q24.3 deletion syndrome
    • VRJS
    • ocular abnormalities