Genomics England

RPGRIP1L

RPGRIP1 like

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MECKEL SYNDROME TYPE 5 611561, JOUBERT SYNDROME TYPE 7 611560, COACH SYNDROME 216360
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MECKEL SYNDROME TYPE 5, COACH SYNDROME, JOUBERT SYNDROME TYPE 7
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 7, 611560Meckel syndrome 5, 611561COACH syndrome, 216360, COACH SYNDROME (COACHS)
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 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 7, Meckel syndrome 5, Joubert syndrome, Meckel syndrome, Meckel-Gruber syndrome
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome, Joubert syndrome 7, Meckel syndrome 5, Eye Disorders
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome 216360, Meckel syndrome 5 611561, Joubert syndrome 7 611560
Green in Structural eye disease R-numbers: R36 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes COACH syndrome, 216360
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 5 611561, Ciliopathy genes associated with cystic kidney disease, COACH syndrome 216360, Joubert syndrome 7 611560