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Skeletal dysplasia

Gene: PUF60

Green List (high evidence)

PUF60 (poly(U) binding splicing factor 60)
EnsemblGeneIds (GRCh38): ENSG00000179950
EnsemblGeneIds (GRCh37): ENSG00000179950
OMIM: 604819, Gene2Phenotype
PUF60 is in 8 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Missense cluster within RRM_1 domain (Decipher)

LOF established
Created: 14 Feb 2020, 3:23 a.m. | Last Modified: 14 Feb 2020, 3:23 a.m.
Panel Version: 0.1357

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verheij syndrome

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
  • Literature
  • NHS GMS
Phenotypes
  • Verheij syndrome, 615583
  • Chromosome 8q24.3 deletion syndrome
  • VRJS
  • PUF60 syndrome
OMIM
604819
Clinvar variants
Variants in PUF60
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUF60 was added gene: PUF60 was added to Skeletal dysplasia. Sources: NHS GMS,Literature,Other,Expert Review Green Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 28327570; 24140112; 27804958 Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; Chromosome 8q24.3 deletion syndrome; VRJS; PUF60 syndrome