Genomics England
GMS Panels
Panels
Genes and Entities

KIF1BP

KIF1 binding protein
OMIM: 609367
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460, GOSHS
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome 609460
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)