Genomics England
GMS Panels
Panels
Genes and Entities

UFSP2

UFM1 specific peptidase 2
OMIM: 611482
PanelMode of inheritanceDetails
3 panels
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 6.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Poor weight gain, microcephaly, epilepsy, developmental delay, lack of speech, intellectual disability
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Abnormal muscle tone, Seizures, Global developmental delay, Delayed speech and language development, Intellectual disability, Strabismus
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Beukes Hip Dysplasia OMIM:142669, hip dysplasia, Beukes type MONDO:0007726, ?Spondyloepimetaphyseal dysplasia, Di Rocco type OMIM:617974, spondyloepimetaphyseal dysplasia, di rocco type MONDO:0060702