Genomics England
GMS Panels
Panels
Genes and Entities

INPP5E

inositol polyphosphate-5-phosphatase E
OMIM: 613037
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME TYPE 1 213300, MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS, JOUBERT SYNDROME TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156, Joubert syndrome 1, 213300, MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS)
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Joubert syndrome 1
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Joubert syndrome 1
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Joubert syndrome 1
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Genetic Retinal Degeneration Conditions
Green
in Structural eye disease
R-numbers: R36
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Joubert syndrome 1, 213300, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156