RPGRIP1L

PanelMode of inheritanceDetails
10 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MECKEL SYNDROME TYPE 5 611561, JOUBERT SYNDROME TYPE 7 611560, COACH SYNDROME 216360
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MECKEL SYNDROME TYPE 5, COACH SYNDROME, JOUBERT SYNDROME TYPE 7
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360, COACH SYNDROME (COACHS)
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, Joubert syndrome 7, Meckel syndrome 5, Eye Disorders
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome 216360, Meckel syndrome 5 611561, Joubert syndrome 7 611560
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COACH syndrome, 216360
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 5 611561, Ciliopathy genes associated with cystic kidney disease, COACH syndrome 216360, Joubert syndrome 7 611560