Genomics England
GMS Panels
Panels
Genes and Entities

NUP188

nucleoporin 188
OMIM: 615587
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 8.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, 618804
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM:618804.0, NUP188-related neurodegeneration, cataracts and facial dysmorphisms, MONDO:0032926
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 9.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, OMIM:618804
Green
in Structural eye disease
R-numbers: R36
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, OMIM:618804, MONDO:0032926
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sandestig-Stefanova syndrome, 618804