Genomics England

poly(U) binding splicing factor 60

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PUF60 syndrome
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PUF60 syndrome
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Syndromic intellectual disability, Verheij syndrome, 615583, VRJS, Chromosome 8q24.3 deletion syndrome, PUF60 syndrome, Intellectual disability
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Verheij syndrome, OMIM:615583
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Verheij syndrome, 615583, PUF60 syndrome, VRJS, Chromosome 8q24.3 deletion syndrome
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Verheij syndrome, 615583, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome, VRJS, ocular abnormalities