PUF60

poly(U) binding splicing factor 60
OMIM: 604819
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
8Q24.3 DELETION-LIKE, PUF60 syndrome
R-numbers: R21, R412
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PUF60 syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic intellectual disability, Verheij syndrome, 615583, VRJS, Chromosome 8q24.3 deletion syndrome, PUF60 syndrome, Intellectual disability
R-numbers: R88
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, OMIM:615583
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, 615583, PUF60 syndrome, VRJS, Chromosome 8q24.3 deletion syndrome
R-numbers: R36
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, 615583, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome, VRJS, ocular abnormalities