JAG1

jagged 1
OMIM: 601920, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green JAG1 in Alagille syndrome Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome, MIM# 1 118450
Green JAG1 in Eye Anterior Segment Abnormalities Level 2: Ophthalmological disorders Version 1.12	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Alagille syndrome 118450
Amber JAG1 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.85	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes thoracic aortic aneurysm MONDO:0005396
Green JAG1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic Level 2: Renal and urinary tract disorders Version 0.138 Component of the following Super Panels: Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel Kidneyome_SuperPanel	review	Unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Green JAG1 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome 1 #118450
Green JAG1 in Cholestasis Level 2: Gastroenterological disorders Version 0.240 Component of the following Super Panels: Liverome Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber JAG1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Alagille syndrome 1, MIM# 118450
Green JAG1 in Mendeliome Version 1.1902	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Alagille syndrome 1, MIM# 118450 Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574
Red JAG1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genetic Health Queensland Phenotypes Alagille syndrome 1, MIM#118450
Green JAG1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Peripheral neuropathy
Green JAG1 in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 0.209 Component of the following Super Panels: Retinal Disorders Superpanel	review	Unknown	Sources Expert Review Green Literature RetNet Expert Review Green Victorian Clinical Genetics Services
Amber JAG1 in Vitreoretinopathy Level 2: Ophthalmological disoders Version 1.4 Component of the following Super Panels: Retinal Disorders Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Familial exudative vitreoretinopathy
Red JAG1 in Cerebral vascular malformations Level 2: Neurology and neurodevelopmental disorders Version 0.39 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Genomics England PanelApp Expert Review Red Phenotypes Alagille syndrome 1, 118450 Moyamoya disease
Green JAG1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Alagille syndrome
Green JAG1 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Liverome Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Alagille syndrome, MIM# 118450
Green JAG1 in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Alagille syndrome 1, MIM#118450
Red JAG1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Alagille syndrome, MIM# 1 118450