PUF60

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green PUF60 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.39	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Verheij syndrome, MIM#615583
Green PUF60 in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green PUF60 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Verheij syndrome, MIM# 615583
Green PUF60 in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Verheij syndrome, MIM# 615583
Green PUF60 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Verheij syndrome, MIM# 615583
Green PUF60 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	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
Green PUF60 in Growth failure Version 1.76	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Verheij syndrome, OMIM # 615583
Green PUF60 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Verheij syndrome, MIM# 615583