Genomics England
GMS Panels
Panels
Genes and Entities

PRPF8

pre-mRNA processing factor 8
OMIM: 607300
PanelMode of inheritanceDetails
4 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
PRPF8-related developmental disorder (monoallelic)
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
PRPF8-related developmental disorder (monoallelic), Retinitis pigmentosa 13, OMIM:600059
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, NOT imprinted
Phenotypes
PRPF8-related developmental disorder (monoallelic), Retinitis pigmentosa 13, OMIM:600059
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Retinitis pigmentosa 13, Eye Disorders, Retinitis Pigmentosa, Dominant, Retinitis pigmentosa, Retinitis pigmentosa 13, 600059