PUF60

poly(U) binding splicing factor 60
OMIM: 604819
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
8Q24.3 DELETION-LIKE, PUF60 syndrome
R-numbers: R21
Signed-off version 1.92
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 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Syndromic intellectual disability, Verheij syndrome, 615583, VRJS, Chromosome 8q24.3 deletion syndrome, PUF60 syndrome, Intellectual disability
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, 615583, PUF60 syndrome, VRJS, Chromosome 8q24.3 deletion syndrome
R-numbers: R36
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Verheij syndrome, 615583, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome, VRJS, ocular abnormalities