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 1.6

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 1.24

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 1.193

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 0.339

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

Green PUF60 in DDG2P


Version 1.80

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 2.1015

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 0.84

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