Genomics England

AHI1

Abelson helper integration site 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 614615
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT 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 Joubert syndrome 3 608629
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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 3, Joubert syndrome, Joubert syndrome-3.
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 3, Joubert syndrome, Joubert syndrome-3.
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 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 3, Joubert syndrome, Joubert syndrome-3.
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Joubert syndrome 3, 608629