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 5.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome 609460
R-numbers: R88
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Goldberg-Shprintzen megacolon syndrome, 609460 (Microcephaly)