Growth failure
Gene: PUF60EnsemblGeneIds (GRCh38): ENSG00000179950
EnsemblGeneIds (GRCh37): ENSG00000179950
OMIM: 604819, Gene2Phenotype
PUF60 is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
Verheij syndrome is characterised by growth retardation, delayed psychomotor development, dysmorphic facial features, skeletal/vertebral abnormalities, coloboma, renal defects, and cardiac defects. Over 25 patients reported in literature with deletions and SNVs involving PUF60.
Sources: LiteratureCreated: 19 Aug 2021, 10:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, OMIM # 615583
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Verheij syndrome, OMIM # 615583
- OMIM
- 604819
- Clinvar variants
- Variants in PUF60
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: puf60 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: PUF60 were set to PubMed: 19464398, 24140112, 28327570, 27804958
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: puf60 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PUF60 was added gene: PUF60 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to PubMed: 19464398, 24140112, 28327570, 27804958 Phenotypes for gene: PUF60 were set to Verheij syndrome, OMIM # 615583 Review for gene: PUF60 was set to GREEN